Canonical Allele Identifier: CA964935948

Gene: POMT2

Linked Data

• dbSNP Id: rs1891035033
• gnomAD v3: 14-77301356-CCT-C
• gnomAD v4: 14-77301356-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301357_77301358del , CM000676.2:g.77301357_77301358del	GRCh38
NC_000014.8:g.77767700_77767701del , CM000676.1:g.77767700_77767701del	GRCh37
NC_000014.7:g.76837453_76837454del	NCBI36
NG_008897.1:g.24525_24526del , LRG_844:g.24525_24526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-109_110-108del	ENSP00000508202.1:n.110-109_110-108del
ENST00000556394.2:c.358-1797_358-1796del	ENSP00000451967.2:n.358-1797_358-1796del
ENST00000556880.6:n.681-109_681-108del
ENST00000682247.1:c.657-109_657-108del	ENSP00000507213.1:n.657-109_657-108del
ENST00000682382.1:c.496-2587_496-2586del
ENST00000682395.1:n.386-109_386-108del
ENST00000682459.1:n.321-109_321-108del
ENST00000682467.1:c.657-109_657-108del	ENSP00000508062.1:n.657-109_657-108del
ENST00000682795.1:c.657-109_657-108del	ENSP00000507574.1:n.657-109_657-108del
ENST00000682895.1:n.373-109_373-108del
ENST00000682955.1:n.212-2587_212-2586del
ENST00000683188.1:c.343-1797_343-1796del
ENST00000683300.1:c.109+3334_109+3335del	ENSP00000507630.1:n.109+3334_109+3335del
ENST00000683328.1:c.109+3334_109+3335del	ENSP00000508096.1:n.109+3334_109+3335del
ENST00000683380.1:n.321-109_321-108del
ENST00000683551.1:c.109+1477_109+1478del
ENST00000683828.1:c.525+1477_525+1478del
ENST00000684259.1:n.508-109_508-108del
ENST00000684549.1:n.368-1797_368-1796del
ENST00000261534.9:c.657-109_657-108del MANE Select	ENSP00000261534.4:n.657-109_657-108del
ENST00000261534.8:c.657-109_657-108del	ENSP00000261534.4:n.657-109_657-108del
ENST00000452340.7:n.680-109_680-108del
ENST00000553863.5:n.321-109_321-108del
ENST00000554948.1:c.384-109_384-108del	ENSP00000452060.1:n.384-109_384-108del
ENST00000555675.5:n.373-109_373-108del
ENST00000556326.5:c.*323-109_*323-108del	ENSP00000450630.1:n.*323-109_*323-108del
ENST00000557289.1:c.56-1797_56-1796del	ENSP00000451115.1:n.56-1797_56-1796del
NM_013382.5:c.657-109_657-108del , LRG_844t1:c.657-109_657-108del	NP_037514.2:n.657-109_657-108del
XM_011536675.1:c.657-109_657-108del	XP_011534977.1:n.657-109_657-108del
XM_011536676.1:c.324-109_324-108del	XP_011534978.1:n.324-109_324-108del
XM_011536677.1:c.547+3334_547+3335del	XP_011534979.1:n.547+3334_547+3335del
XM_011536678.1:c.657-109_657-108del	XP_011534980.1:n.657-109_657-108del
XM_011536679.1:c.-90-1797_-90-1796del	XP_011534981.1:n.-90-1797_-90-1796del
XM_011536680.1:c.657-109_657-108del	XP_011534982.1:n.657-109_657-108del
XR_943416.1:n.860-109_860-108del
XM_011536675.2:c.657-109_657-108del	XP_011534977.1:n.657-109_657-108del
XM_011536676.2:c.324-109_324-108del	XP_011534978.1:n.324-109_324-108del
XM_011536677.3:c.547+3334_547+3335del	XP_011534979.1:n.547+3334_547+3335del
XR_001750279.1:n.857-109_857-108del
XR_001750282.1:n.861-109_861-108del
XR_943416.3:n.858-109_858-108del
NM_013382.6:c.657-109_657-108del	NP_037514.2:n.657-109_657-108del
NM_013382.7:c.657-109_657-108del MANE Select	NP_037514.2:n.657-109_657-108del