Canonical Allele Identifier: CA2625846276

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279090-CACCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279091_77279095del , CM000676.2:g.77279091_77279095del	GRCh38
NC_000014.8:g.77745434_77745438del , CM000676.1:g.77745434_77745438del	GRCh37
NC_000014.7:g.76815187_76815191del	NCBI36
NG_008897.1:g.46788_46792del , LRG_844:g.46788_46792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-226_817-222del
ENST00000556394.2:c.1433-226_1433-222del	ENSP00000451967.2:n.1433-226_1433-222del
ENST00000682128.1:c.193-226_193-222del	ENSP00000506976.1:n.193-226_193-222del
ENST00000682247.1:c.1892-237_1892-233del	ENSP00000507213.1:n.1892-237_1892-233del
ENST00000682395.1:n.2356-226_2356-222del
ENST00000682459.1:n.1595-226_1595-222del
ENST00000682467.1:c.1892-587_1892-583del	ENSP00000508062.1:n.1892-587_1892-583del
ENST00000682615.1:n.246-226_246-222del
ENST00000682795.1:c.2039-226_2039-222del	ENSP00000507574.1:n.2039-226_2039-222del
ENST00000682895.1:n.1608-226_1608-222del
ENST00000682955.1:n.1466-226_1466-222del
ENST00000683095.1:c.298-226_298-222del	ENSP00000508040.1:n.298-226_298-222del
ENST00000683188.1:c.2153-226_2153-222del
ENST00000683380.1:n.1556-226_1556-222del
ENST00000683828.1:c.1601-226_1601-222del
ENST00000683907.1:c.157-226_157-222del	ENSP00000507754.1:n.157-226_157-222del
ENST00000684172.1:c.268-226_268-222del	ENSP00000508391.1:n.268-226_268-222del
ENST00000684259.1:n.3433_3437del
ENST00000684538.1:n.1045_1049del
ENST00000684549.1:n.1443-226_1443-222del
ENST00000261534.9:c.1892-226_1892-222del MANE Select	ENSP00000261534.4:n.1892-226_1892-222del
ENST00000261534.8:c.1892-226_1892-222del	ENSP00000261534.4:n.1892-226_1892-222del
ENST00000452340.7:n.2642_2646del
ENST00000554767.5:n.2678-226_2678-222del
ENST00000555134.1:n.817-226_817-222del
ENST00000555710.1:c.161-134_161-130del	ENSP00000451730.1:n.161-134_161-130del
ENST00000556171.1:c.484-226_484-222del
ENST00000556394.1:c.88-587_88-583del
ENST00000602717.5:c.107-226_107-222del	ENSP00000487704.1:n.107-226_107-222del
NM_013382.5:c.1892-226_1892-222del , LRG_844t1:c.1892-226_1892-222del	NP_037514.2:n.1892-226_1892-222del
XM_011536675.1:c.2081-226_2081-222del	XP_011534977.1:n.2081-226_2081-222del
XM_011536676.1:c.1748-226_1748-222del	XP_011534978.1:n.1748-226_1748-222del
XM_011536677.1:c.1622-226_1622-222del	XP_011534979.1:n.1622-226_1622-222del
XM_011536678.1:c.*403_*407del	XP_011534980.1:n.*403_*407del
XM_011536679.1:c.1175-226_1175-222del	XP_011534981.1:n.1175-226_1175-222del
XR_943416.1:n.2145-226_2145-222del
XM_011536675.2:c.2081-226_2081-222del	XP_011534977.1:n.2081-226_2081-222del
XM_011536676.2:c.1748-226_1748-222del	XP_011534978.1:n.1748-226_1748-222del
XM_011536677.3:c.1622-226_1622-222del	XP_011534979.1:n.1622-226_1622-222del
XR_001750279.1:n.2178-226_2178-222del
XR_001750282.1:n.2831-226_2831-222del
XR_943416.3:n.2143-226_2143-222del
NM_013382.6:c.1892-226_1892-222del	NP_037514.2:n.1892-226_1892-222del
NM_013382.7:c.1892-226_1892-222del MANE Select	NP_037514.2:n.1892-226_1892-222del