Canonical Allele Identifier: CA615199190

Gene: POMT2

Linked Data

• dbSNP Id: rs1432906605
• gnomAD v2: 14-77745290-TCCTTGCTGTGTGA-T
• gnomAD v4: 14-77278947-TCCTTGCTGTGTGA-T
• MyVariant Identifiers: chr14:g.77745291_77745303del (hg19) ; chr14:g.77278948_77278960del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278953_77278965del , CM000676.2:g.77278953_77278965del	GRCh38
NC_000014.8:g.77745296_77745308del , CM000676.1:g.77745296_77745308del	GRCh37
NC_000014.7:g.76815049_76815061del	NCBI36
NG_008897.1:g.46923_46935del , LRG_844:g.46923_46935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-91_817-79del
ENST00000556394.2:c.1433-91_1433-79del	ENSP00000451967.2:n.1433-91_1433-79del
ENST00000682128.1:c.193-91_193-79del	ENSP00000506976.1:n.193-91_193-79del
ENST00000682247.1:c.1892-102_1892-90del	ENSP00000507213.1:n.1892-102_1892-90del
ENST00000682395.1:n.2356-91_2356-79del
ENST00000682459.1:n.1595-91_1595-79del
ENST00000682467.1:c.1892-452_1892-440del	ENSP00000508062.1:n.1892-452_1892-440del
ENST00000682615.1:n.246-91_246-79del
ENST00000682795.1:c.2039-91_2039-79del	ENSP00000507574.1:n.2039-91_2039-79del
ENST00000682895.1:n.1608-91_1608-79del
ENST00000682955.1:n.1466-91_1466-79del
ENST00000683095.1:c.298-91_298-79del	ENSP00000508040.1:n.298-91_298-79del
ENST00000683188.1:c.2153-91_2153-79del
ENST00000683380.1:n.1556-91_1556-79del
ENST00000683828.1:c.1601-91_1601-79del
ENST00000683907.1:c.157-91_157-79del	ENSP00000507754.1:n.157-91_157-79del
ENST00000684172.1:c.268-91_268-79del	ENSP00000508391.1:n.268-91_268-79del
ENST00000684259.1:n.3568_3580del
ENST00000684538.1:n.1180_1192del
ENST00000684549.1:n.1443-91_1443-79del
ENST00000261534.9:c.1892-91_1892-79del MANE Select	ENSP00000261534.4:n.1892-91_1892-79del
ENST00000261534.8:c.1892-91_1892-79del	ENSP00000261534.4:n.1892-91_1892-79del
ENST00000452340.7:n.2777_2789del
ENST00000554767.5:n.2678-91_2678-79del
ENST00000555134.1:n.817-91_817-79del
ENST00000555710.1:c.162_174del
ENST00000556171.1:c.484-91_484-79del
ENST00000556394.1:c.88-452_88-440del
ENST00000556446.1:n.102_114del
ENST00000602717.5:c.107-91_107-79del	ENSP00000487704.1:n.107-91_107-79del
NM_013382.5:c.1892-91_1892-79del , LRG_844t1:c.1892-91_1892-79del	NP_037514.2:n.1892-91_1892-79del
XM_011536675.1:c.2081-91_2081-79del	XP_011534977.1:n.2081-91_2081-79del
XM_011536676.1:c.1748-91_1748-79del	XP_011534978.1:n.1748-91_1748-79del
XM_011536677.1:c.1622-91_1622-79del	XP_011534979.1:n.1622-91_1622-79del
XM_011536678.1:c.*538_*550del	XP_011534980.1:n.*538_*550del
XM_011536679.1:c.1175-91_1175-79del	XP_011534981.1:n.1175-91_1175-79del
XR_943416.1:n.2145-91_2145-79del
XM_011536675.2:c.2081-91_2081-79del	XP_011534977.1:n.2081-91_2081-79del
XM_011536676.2:c.1748-91_1748-79del	XP_011534978.1:n.1748-91_1748-79del
XM_011536677.3:c.1622-91_1622-79del	XP_011534979.1:n.1622-91_1622-79del
XR_001750279.1:n.2178-91_2178-79del
XR_001750282.1:n.2831-91_2831-79del
XR_943416.3:n.2143-91_2143-79del
NM_013382.6:c.1892-91_1892-79del	NP_037514.2:n.1892-91_1892-79del
NM_013382.7:c.1892-91_1892-79del MANE Select	NP_037514.2:n.1892-91_1892-79del