Canonical Allele Identifier: CA263817904

Gene: POMT2

Linked Data

• dbSNP Id: rs966683555
• gnomAD v3: 14-77279176-CATCTTTGCT-C
• gnomAD v4: 14-77279176-CATCTTTGCT-C
• MyVariant Identifiers: chr14:g.77745520_77745528del (hg19) ; chr14:g.77279177_77279185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279177_77279185del , CM000676.2:g.77279177_77279185del	GRCh38
NC_000014.8:g.77745520_77745528del , CM000676.1:g.77745520_77745528del	GRCh37
NC_000014.7:g.76815273_76815281del	NCBI36
NG_008897.1:g.46698_46706del , LRG_844:g.46698_46706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-316_817-308del
ENST00000556394.2:c.1433-316_1433-308del	ENSP00000451967.2:n.1433-316_1433-308del
ENST00000682128.1:c.193-316_193-308del	ENSP00000506976.1:n.193-316_193-308del
ENST00000682247.1:c.1892-327_1892-319del	ENSP00000507213.1:n.1892-327_1892-319del
ENST00000682395.1:n.2356-316_2356-308del
ENST00000682459.1:n.1595-316_1595-308del
ENST00000682467.1:c.1891+638_1891+646del	ENSP00000508062.1:n.1891+638_1891+646del
ENST00000682615.1:n.246-316_246-308del
ENST00000682795.1:c.2039-316_2039-308del	ENSP00000507574.1:n.2039-316_2039-308del
ENST00000682895.1:n.1608-316_1608-308del
ENST00000682955.1:n.1466-316_1466-308del
ENST00000683095.1:c.298-316_298-308del	ENSP00000508040.1:n.298-316_298-308del
ENST00000683188.1:c.2153-316_2153-308del
ENST00000683380.1:n.1556-316_1556-308del
ENST00000683828.1:c.1601-316_1601-308del
ENST00000683907.1:c.157-316_157-308del	ENSP00000507754.1:n.157-316_157-308del
ENST00000684172.1:c.268-316_268-308del	ENSP00000508391.1:n.268-316_268-308del
ENST00000684259.1:n.3343_3351del
ENST00000684538.1:n.955_963del
ENST00000684549.1:n.1443-316_1443-308del
ENST00000261534.9:c.1892-316_1892-308del MANE Select	ENSP00000261534.4:n.1892-316_1892-308del
ENST00000261534.8:c.1892-316_1892-308del	ENSP00000261534.4:n.1892-316_1892-308del
ENST00000452340.7:n.2552_2560del
ENST00000554767.5:n.2678-316_2678-308del
ENST00000555134.1:n.817-316_817-308del
ENST00000555710.1:c.161-224_161-216del	ENSP00000451730.1:n.161-224_161-216del
ENST00000556171.1:c.484-316_484-308del
ENST00000556394.1:c.87+638_87+646del
ENST00000602717.5:c.107-316_107-308del	ENSP00000487704.1:n.107-316_107-308del
NM_013382.5:c.1892-316_1892-308del , LRG_844t1:c.1892-316_1892-308del	NP_037514.2:n.1892-316_1892-308del
XM_011536675.1:c.2081-316_2081-308del	XP_011534977.1:n.2081-316_2081-308del
XM_011536676.1:c.1748-316_1748-308del	XP_011534978.1:n.1748-316_1748-308del
XM_011536677.1:c.1622-316_1622-308del	XP_011534979.1:n.1622-316_1622-308del
XM_011536678.1:c.*313_*321del	XP_011534980.1:n.*313_*321del
XM_011536679.1:c.1175-316_1175-308del	XP_011534981.1:n.1175-316_1175-308del
XR_943416.1:n.2145-316_2145-308del
XM_011536675.2:c.2081-316_2081-308del	XP_011534977.1:n.2081-316_2081-308del
XM_011536676.2:c.1748-316_1748-308del	XP_011534978.1:n.1748-316_1748-308del
XM_011536677.3:c.1622-316_1622-308del	XP_011534979.1:n.1622-316_1622-308del
XR_001750279.1:n.2178-316_2178-308del
XR_001750282.1:n.2831-316_2831-308del
XR_943416.3:n.2143-316_2143-308del
NM_013382.6:c.1892-316_1892-308del	NP_037514.2:n.1892-316_1892-308del
NM_013382.7:c.1892-316_1892-308del MANE Select	NP_037514.2:n.1892-316_1892-308del