Canonical Allele Identifier: CA590754029

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2153063
• ClinVar RCV Id: RCV003085474
• dbSNP Id: rs1381686729
• gnomAD v2: 9-134393820-GT-G
• gnomAD v3: 9-131518433-GT-G
• gnomAD v4: 9-131518433-GT-G
• MyVariant Identifiers: chr9:g.134393821del (hg19) ; chr9:g.131518434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518434del , CM000671.2:g.131518434del	GRCh38
NC_000009.11:g.134393821del , CM000671.1:g.134393821del	GRCh37
NC_000009.10:g.133383642del	NCBI36
NG_008896.1:g.20533del
NG_008896.2:g.20533del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1111-11del	ENSP00000343034.7:n.1111-11del
ENST00000404875.7:n.1813-11del
ENST00000423007.6:c.1330-11del	ENSP00000404119.2:n.1330-11del
ENST00000677295.2:c.*1617-11del	ENSP00000504346.2:n.*1617-11del
ENST00000678264.2:c.*1456-11del	ENSP00000503157.2:n.*1456-11del
ENST00000682070.1:n.1738-11del
ENST00000682535.1:n.34del
ENST00000682539.1:c.211-11del
ENST00000682813.1:n.1538-11del
ENST00000683392.1:n.4020-11del
ENST00000683712.1:n.1678-11del
ENST00000683900.1:n.3173-11del
ENST00000684062.1:n.1939-11del
ENST00000684579.1:n.3119-11del
ENST00000684679.1:n.500-11del
ENST00000341012.12:c.1111-11del	ENSP00000343034.7:n.1111-11del
ENST00000372220.5:c.142-11del	ENSP00000361294.5:n.142-11del
ENST00000372228.9:c.1339-11del	ENSP00000361302.3:n.1339-11del
ENST00000402686.8:c.1273-11del MANE Select	ENSP00000385797.4:n.1273-11del
ENST00000676640.1:c.1273-11del	ENSP00000503281.1:n.1273-11del
ENST00000676803.1:c.448-11del	ENSP00000503093.1:n.448-11del
ENST00000676835.1:c.*488-11del	ENSP00000502911.1:n.*488-11del
ENST00000677029.1:c.817-11del	ENSP00000502936.1:n.817-11del
ENST00000677099.1:c.*983-11del	ENSP00000504553.1:n.*983-11del
ENST00000677216.1:c.922-11del	ENSP00000503772.1:n.922-11del
ENST00000677221.1:n.298-11del
ENST00000677295.1:c.*650-11del	ENSP00000504346.1:n.*650-11del
ENST00000677444.1:c.1079-11del
ENST00000677586.1:n.754-11del
ENST00000677626.1:c.922-11del	ENSP00000503552.1:n.922-11del
ENST00000677677.1:n.1233-11del
ENST00000677853.1:c.*281-11del	ENSP00000503488.1:n.*281-11del
ENST00000677944.1:c.535-11del
ENST00000677983.1:n.362-11del
ENST00000678202.1:n.293-11del
ENST00000678264.1:c.*650-11del	ENSP00000503157.1:n.*650-11del
ENST00000678303.1:c.1183-11del	ENSP00000503696.1:n.1183-11del
ENST00000678366.1:c.*1522-11del	ENSP00000504353.1:n.*1522-11del
ENST00000678546.1:c.*1218-11del	ENSP00000503062.1:n.*1218-11del
ENST00000678548.1:c.*1345-11del	ENSP00000503934.1:n.*1345-11del
ENST00000678626.1:n.970-11del
ENST00000678733.1:c.354-11del
ENST00000678739.1:c.*1599-11del	ENSP00000503806.1:n.*1599-11del
ENST00000678795.1:n.360-11del
ENST00000678833.1:c.*720-11del	ENSP00000503893.1:n.*720-11del
ENST00000678942.1:c.453-11del	ENSP00000504690.1:n.453-11del
ENST00000679023.1:c.1111-11del	ENSP00000503718.1:n.1111-11del
ENST00000679076.1:c.892-11del
ENST00000679111.1:c.1273-11del	ENSP00000504257.1:n.1273-11del
ENST00000679189.1:c.922-11del	ENSP00000503356.1:n.922-11del
ENST00000341012.11:c.1111-11del	ENSP00000343034.7:n.1111-11del
ENST00000372220.4:c.136-11del	ENSP00000361294.4:n.136-11del
ENST00000372228.7:c.1339-11del	ENSP00000361302.3:n.1339-11del
ENST00000402686.7:c.1273-11del	ENSP00000385797.3:n.1273-11del
ENST00000404875.6:c.922-11del	ENSP00000384531.2:n.922-11del
ENST00000423007.5:c.1273-11del	ENSP00000404119.1:n.1273-11del
ENST00000485278.5:n.1828-11del
NM_001077365.1:c.1273-11del	NP_001070833.1:n.1273-11del
NM_001077366.1:c.1111-11del	NP_001070834.1:n.1111-11del
NM_001136113.1:c.1273-11del	NP_001129585.1:n.1273-11del
NM_001136114.1:c.922-11del	NP_001129586.1:n.922-11del
NM_007171.3:c.1339-11del	NP_009102.3:n.1339-11del
XM_005272156.1:c.1339-11del	XP_005272213.1:n.1339-11del
XM_005272158.1:c.1177-11del	XP_005272215.1:n.1177-11del
XM_005272159.1:c.988-11del	XP_005272216.1:n.988-11del
XM_005272162.1:c.142-11del	XP_005272219.1:n.142-11del
XM_006716932.1:c.988-11del	XP_006716995.1:n.988-11del
XM_011518140.1:c.1192-11del	XP_011516442.1:n.1192-11del
XM_011518141.1:c.1126-11del	XP_011516443.1:n.1126-11del
XM_011518142.1:c.1030-11del	XP_011516444.1:n.1030-11del
XM_011518143.1:c.1024-11del	XP_011516445.1:n.1024-11del
XM_011518144.1:c.1339-11del	XP_011516446.1:n.1339-11del
XM_011518145.1:c.883-11del	XP_011516447.1:n.883-11del
XM_011518146.1:c.1024-11del	XP_011516448.1:n.1024-11del
XM_011518147.1:c.211-11del	XP_011516449.1:n.211-11del
XR_929703.1:n.1515-11del
NM_001353193.1:c.1339-11del	NP_001340122.1:n.1339-11del
NM_001353194.1:c.1111-11del	NP_001340123.1:n.1111-11del
NM_001353195.1:c.922-11del	NP_001340124.1:n.922-11del
NM_001353196.1:c.1183-11del	NP_001340125.1:n.1183-11del
NM_001353197.1:c.1177-11del	NP_001340126.1:n.1177-11del
NM_001353198.1:c.1177-11del	NP_001340127.1:n.1177-11del
NM_001353199.1:c.988-11del	NP_001340128.1:n.988-11del
NM_001353200.1:c.817-11del	NP_001340129.1:n.817-11del
NR_148391.1:n.1323-11del
NR_148392.1:n.1541-11del
NR_148393.1:n.1323-11del
NR_148394.1:n.1216-11del
NR_148395.1:n.1475-11del
NR_148396.1:n.1109-11del
NR_148397.1:n.1373-11del
NR_148398.1:n.1328-11del
NR_148399.1:n.1715-11del
NR_148400.1:n.1314-11del
XM_005272162.3:c.142-11del	XP_005272219.1:n.142-11del
XM_006716932.2:c.988-11del	XP_006716995.1:n.988-11del
XM_011518140.2:c.1192-11del	XP_011516442.1:n.1192-11del
XM_011518141.2:c.1126-11del	XP_011516443.1:n.1126-11del
XM_011518142.2:c.1030-11del	XP_011516444.1:n.1030-11del
XM_011518143.2:c.1024-11del	XP_011516445.1:n.1024-11del
XM_011518145.2:c.883-11del	XP_011516447.1:n.883-11del
XM_017014205.2:c.142-11del	XP_016869694.1:n.142-11del
XM_024447380.1:c.142-11del	XP_024303148.1:n.142-11del
XM_024447381.1:c.448-11del	XP_024303149.1:n.448-11del
XM_024447382.1:c.142-11del	XP_024303150.1:n.142-11del
XR_001746160.2:n.1443-11del
XR_001746162.2:n.1509-11del
XR_001746164.1:n.1226-11del
XR_001746166.2:n.1660-11del
XR_930402.2:n.5del
NM_001077365.2:c.1273-11del MANE Select	NP_001070833.1:n.1273-11del
NM_001077366.2:c.1111-11del	NP_001070834.1:n.1111-11del
NM_001136113.2:c.1273-11del	NP_001129585.1:n.1273-11del
NM_001136114.2:c.922-11del	NP_001129586.1:n.922-11del
NM_001353193.2:c.1339-11del	NP_001340122.2:n.1339-11del
NM_001353194.2:c.1111-11del	NP_001340123.1:n.1111-11del
NM_001353195.2:c.922-11del	NP_001340124.1:n.922-11del
NM_001353196.2:c.1183-11del	NP_001340125.1:n.1183-11del
NM_001353197.2:c.1177-11del	NP_001340126.2:n.1177-11del
NM_001353198.2:c.1177-11del	NP_001340127.2:n.1177-11del
NM_001353199.2:c.988-11del	NP_001340128.2:n.988-11del
NM_001353200.2:c.817-11del	NP_001340129.1:n.817-11del
NM_001374689.1:c.1261-11del	NP_001361618.1:n.1261-11del
NM_001374690.1:c.1273-11del	NP_001361619.1:n.1273-11del
NM_001374691.1:c.922-11del	NP_001361620.1:n.922-11del
NM_001374692.1:c.922-11del	NP_001361621.1:n.922-11del
NM_001374693.1:c.922-11del	NP_001361622.1:n.922-11del
NM_001374695.1:c.883-11del	NP_001361624.1:n.883-11del
NM_007171.4:c.1339-11del	NP_009102.4:n.1339-11del
NR_148391.2:n.1307-11del
NR_148392.2:n.1525-11del
NR_148393.2:n.1307-11del
NR_148394.2:n.1200-11del
NR_148395.2:n.1459-11del
NR_148396.2:n.1093-11del
NR_148397.2:n.1357-11del
NR_148398.2:n.1312-11del
NR_148399.2:n.1699-11del
NR_148400.2:n.1298-11del