Canonical Allele Identifier: CA2625847893

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306559-GAAAATGTTGCCAATGCAACATTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306560_77306583del , CM000676.2:g.77306560_77306583del	GRCh38
NC_000014.8:g.77772903_77772926del , CM000676.1:g.77772903_77772926del	GRCh37
NC_000014.7:g.76842656_76842679del	NCBI36
NG_008897.1:g.19300_19323del , LRG_844:g.19300_19323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1783_249-1760del	ENSP00000451967.2:n.249-1783_249-1760del
ENST00000556880.6:n.266+49_266+72del
ENST00000682247.1:c.334-142_334-119del	ENSP00000507213.1:n.334-142_334-119del
ENST00000682382.1:c.282-142_282-119del
ENST00000682467.1:c.334-142_334-119del	ENSP00000508062.1:n.334-142_334-119del
ENST00000682795.1:c.334-142_334-119del	ENSP00000507574.1:n.334-142_334-119del
ENST00000683188.1:c.129-142_129-119del
ENST00000683828.1:c.203-142_203-119del
ENST00000684066.1:n.29-142_29-119del
ENST00000684102.1:n.80-142_80-119del
ENST00000684259.1:n.185-142_185-119del
ENST00000684600.1:c.148-142_148-119del
ENST00000684746.1:n.31-142_31-119del
ENST00000261534.9:c.334-142_334-119del MANE Select	ENSP00000261534.4:n.334-142_334-119del
ENST00000261534.8:c.334-142_334-119del	ENSP00000261534.4:n.334-142_334-119del
ENST00000452340.7:n.357-142_357-119del
ENST00000554948.1:c.61-142_61-119del	ENSP00000452060.1:n.61-142_61-119del
ENST00000555788.5:n.168-142_168-119del
ENST00000556326.5:c.249-142_249-119del	ENSP00000450630.1:n.249-142_249-119del
ENST00000556880.5:n.266+49_266+72del
ENST00000557525.1:n.424-142_424-119del
NM_013382.5:c.334-142_334-119del , LRG_844t1:c.334-142_334-119del	NP_037514.2:n.334-142_334-119del
XM_011536675.1:c.334-142_334-119del	XP_011534977.1:n.334-142_334-119del
XM_011536676.1:c.1-142_1-119del	XP_011534978.1:n.1-142_1-119del
XM_011536677.1:c.334-142_334-119del	XP_011534979.1:n.334-142_334-119del
XM_011536678.1:c.334-142_334-119del	XP_011534980.1:n.334-142_334-119del
XM_011536680.1:c.334-142_334-119del	XP_011534982.1:n.334-142_334-119del
XR_943416.1:n.537-142_537-119del
XM_011536675.2:c.334-142_334-119del	XP_011534977.1:n.334-142_334-119del
XM_011536676.2:c.1-142_1-119del	XP_011534978.1:n.1-142_1-119del
XM_011536677.3:c.334-142_334-119del	XP_011534979.1:n.334-142_334-119del
XR_001750279.1:n.534-142_534-119del
XR_001750282.1:n.538-142_538-119del
XR_943416.3:n.535-142_535-119del
NM_013382.6:c.334-142_334-119del	NP_037514.2:n.334-142_334-119del
NM_013382.7:c.334-142_334-119del MANE Select	NP_037514.2:n.334-142_334-119del