Canonical Allele Identifier: CA2625847906

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306569-C-CATTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306569_77306570insATTGG , CM000676.2:g.77306569_77306570insATTGG	GRCh38
NC_000014.8:g.77772912_77772913insATTGG , CM000676.1:g.77772912_77772913insATTGG	GRCh37
NC_000014.7:g.76842665_76842666insATTGG	NCBI36
NG_008897.1:g.19313_19314insCCAAT , LRG_844:g.19313_19314insCCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1770_249-1769insCCAAT	ENSP00000451967.2:n.249-1770_249-1769insCCAAT
ENST00000556880.6:n.266+62_266+63insCCAAT
ENST00000682247.1:c.334-129_334-128insCCAAT	ENSP00000507213.1:n.334-129_334-128insCCAAT
ENST00000682382.1:c.282-129_282-128insCCAAT
ENST00000682467.1:c.334-129_334-128insCCAAT	ENSP00000508062.1:n.334-129_334-128insCCAAT
ENST00000682795.1:c.334-129_334-128insCCAAT	ENSP00000507574.1:n.334-129_334-128insCCAAT
ENST00000683188.1:c.129-129_129-128insCCAAT
ENST00000683828.1:c.203-129_203-128insCCAAT
ENST00000684066.1:n.29-129_29-128insCCAAT
ENST00000684102.1:n.80-129_80-128insCCAAT
ENST00000684259.1:n.185-129_185-128insCCAAT
ENST00000684600.1:c.148-129_148-128insCCAAT
ENST00000684746.1:n.31-129_31-128insCCAAT
ENST00000261534.9:c.334-129_334-128insCCAAT MANE Select	ENSP00000261534.4:n.334-129_334-128insCCAAT
ENST00000261534.8:c.334-129_334-128insCCAAT	ENSP00000261534.4:n.334-129_334-128insCCAAT
ENST00000452340.7:n.357-129_357-128insCCAAT
ENST00000554948.1:c.61-129_61-128insCCAAT	ENSP00000452060.1:n.61-129_61-128insCCAAT
ENST00000555788.5:n.168-129_168-128insCCAAT
ENST00000556326.5:c.249-129_249-128insCCAAT	ENSP00000450630.1:n.249-129_249-128insCCAAT
ENST00000556880.5:n.266+62_266+63insCCAAT
ENST00000557525.1:n.424-129_424-128insCCAAT
NM_013382.5:c.334-129_334-128insCCAAT , LRG_844t1:c.334-129_334-128insCCAAT	NP_037514.2:n.334-129_334-128insCCAAT
XM_011536675.1:c.334-129_334-128insCCAAT	XP_011534977.1:n.334-129_334-128insCCAAT
XM_011536676.1:c.1-129_1-128insCCAAT	XP_011534978.1:n.1-129_1-128insCCAAT
XM_011536677.1:c.334-129_334-128insCCAAT	XP_011534979.1:n.334-129_334-128insCCAAT
XM_011536678.1:c.334-129_334-128insCCAAT	XP_011534980.1:n.334-129_334-128insCCAAT
XM_011536680.1:c.334-129_334-128insCCAAT	XP_011534982.1:n.334-129_334-128insCCAAT
XR_943416.1:n.537-129_537-128insCCAAT
XM_011536675.2:c.334-129_334-128insCCAAT	XP_011534977.1:n.334-129_334-128insCCAAT
XM_011536676.2:c.1-129_1-128insCCAAT	XP_011534978.1:n.1-129_1-128insCCAAT
XM_011536677.3:c.334-129_334-128insCCAAT	XP_011534979.1:n.334-129_334-128insCCAAT
XR_001750279.1:n.534-129_534-128insCCAAT
XR_001750282.1:n.538-129_538-128insCCAAT
XR_943416.3:n.535-129_535-128insCCAAT
NM_013382.6:c.334-129_334-128insCCAAT	NP_037514.2:n.334-129_334-128insCCAAT
NM_013382.7:c.334-129_334-128insCCAAT MANE Select	NP_037514.2:n.334-129_334-128insCCAAT