Canonical Allele Identifier: CA2625847777

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306486-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306486_77306487insT , CM000676.2:g.77306486_77306487insT	GRCh38
NC_000014.8:g.77772829_77772830insT , CM000676.1:g.77772829_77772830insT	GRCh37
NC_000014.7:g.76842582_76842583insT	NCBI36
NG_008897.1:g.19396_19397insA , LRG_844:g.19396_19397insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.17_18insA
ENST00000556394.2:c.249-1687_249-1686insA	ENSP00000451967.2:n.249-1687_249-1686insA
ENST00000556880.6:n.267-46_267-45insA
ENST00000682247.1:c.334-46_334-45insA	ENSP00000507213.1:n.334-46_334-45insA
ENST00000682382.1:c.282-46_282-45insA
ENST00000682395.1:n.17_18insA
ENST00000682459.1:n.17_18insA
ENST00000682467.1:c.334-46_334-45insA	ENSP00000508062.1:n.334-46_334-45insA
ENST00000682795.1:c.334-46_334-45insA	ENSP00000507574.1:n.334-46_334-45insA
ENST00000682895.1:n.4_5insA
ENST00000682955.1:n.17_18insA
ENST00000683188.1:c.129-46_129-45insA
ENST00000683380.1:n.17_18insA
ENST00000683828.1:c.203-46_203-45insA
ENST00000684066.1:n.29-46_29-45insA
ENST00000684102.1:n.80-46_80-45insA
ENST00000684259.1:n.185-46_185-45insA
ENST00000684549.1:n.17_18insA
ENST00000684600.1:c.148-46_148-45insA
ENST00000684746.1:n.31-46_31-45insA
ENST00000261534.9:c.334-46_334-45insA MANE Select	ENSP00000261534.4:n.334-46_334-45insA
ENST00000261534.8:c.334-46_334-45insA	ENSP00000261534.4:n.334-46_334-45insA
ENST00000452340.7:n.357-46_357-45insA
ENST00000553863.5:n.17_18insA
ENST00000554948.1:c.61-46_61-45insA	ENSP00000452060.1:n.61-46_61-45insA
ENST00000555675.5:n.4_5insA
ENST00000555788.5:n.168-46_168-45insA
ENST00000556326.5:c.249-46_249-45insA	ENSP00000450630.1:n.249-46_249-45insA
ENST00000556880.5:n.267-46_267-45insA
ENST00000557525.1:n.424-46_424-45insA
NM_013382.5:c.334-46_334-45insA , LRG_844t1:c.334-46_334-45insA	NP_037514.2:n.334-46_334-45insA
XM_011536675.1:c.334-46_334-45insA	XP_011534977.1:n.334-46_334-45insA
XM_011536676.1:c.1-46_1-45insA	XP_011534978.1:n.1-46_1-45insA
XM_011536677.1:c.334-46_334-45insA	XP_011534979.1:n.334-46_334-45insA
XM_011536678.1:c.334-46_334-45insA	XP_011534980.1:n.334-46_334-45insA
XM_011536680.1:c.334-46_334-45insA	XP_011534982.1:n.334-46_334-45insA
XR_943416.1:n.537-46_537-45insA
XM_011536675.2:c.334-46_334-45insA	XP_011534977.1:n.334-46_334-45insA
XM_011536676.2:c.1-46_1-45insA	XP_011534978.1:n.1-46_1-45insA
XM_011536677.3:c.334-46_334-45insA	XP_011534979.1:n.334-46_334-45insA
XR_001750279.1:n.534-46_534-45insA
XR_001750282.1:n.538-46_538-45insA
XR_943416.3:n.535-46_535-45insA
NM_013382.6:c.334-46_334-45insA	NP_037514.2:n.334-46_334-45insA
NM_013382.7:c.334-46_334-45insA MANE Select	NP_037514.2:n.334-46_334-45insA