Canonical Allele Identifier: CA2625848026

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306690-ACACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306693_77306696del , CM000676.2:g.77306693_77306696del	GRCh38
NC_000014.8:g.77773036_77773039del , CM000676.1:g.77773036_77773039del	GRCh37
NC_000014.7:g.76842789_76842792del	NCBI36
NG_008897.1:g.19189_19192del , LRG_844:g.19189_19192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1894_249-1891del	ENSP00000451967.2:n.249-1894_249-1891del
ENST00000556880.6:n.204_207del
ENST00000682247.1:c.334-253_334-250del	ENSP00000507213.1:n.334-253_334-250del
ENST00000682382.1:c.282-253_282-250del
ENST00000682467.1:c.334-253_334-250del	ENSP00000508062.1:n.334-253_334-250del
ENST00000682795.1:c.334-253_334-250del	ENSP00000507574.1:n.334-253_334-250del
ENST00000683188.1:c.129-253_129-250del
ENST00000683828.1:c.203-253_203-250del
ENST00000684066.1:n.29-253_29-250del
ENST00000684102.1:n.80-253_80-250del
ENST00000684259.1:n.185-253_185-250del
ENST00000684600.1:c.148-253_148-250del
ENST00000684746.1:n.30+197_30+200del
ENST00000261534.9:c.334-253_334-250del MANE Select	ENSP00000261534.4:n.334-253_334-250del
ENST00000261534.8:c.334-253_334-250del	ENSP00000261534.4:n.334-253_334-250del
ENST00000452340.7:n.357-253_357-250del
ENST00000554948.1:c.61-253_61-250del	ENSP00000452060.1:n.61-253_61-250del
ENST00000555788.5:n.168-253_168-250del
ENST00000556326.5:c.249-253_249-250del	ENSP00000450630.1:n.249-253_249-250del
ENST00000556880.5:n.204_207del
ENST00000557525.1:n.424-253_424-250del
NM_013382.5:c.334-253_334-250del , LRG_844t1:c.334-253_334-250del	NP_037514.2:n.334-253_334-250del
XM_011536675.1:c.334-253_334-250del	XP_011534977.1:n.334-253_334-250del
XM_011536676.1:c.1-253_1-250del	XP_011534978.1:n.1-253_1-250del
XM_011536677.1:c.334-253_334-250del	XP_011534979.1:n.334-253_334-250del
XM_011536678.1:c.334-253_334-250del	XP_011534980.1:n.334-253_334-250del
XM_011536680.1:c.334-253_334-250del	XP_011534982.1:n.334-253_334-250del
XR_943416.1:n.537-253_537-250del
XM_011536675.2:c.334-253_334-250del	XP_011534977.1:n.334-253_334-250del
XM_011536676.2:c.1-253_1-250del	XP_011534978.1:n.1-253_1-250del
XM_011536677.3:c.334-253_334-250del	XP_011534979.1:n.334-253_334-250del
XR_001750279.1:n.534-253_534-250del
XR_001750282.1:n.538-253_538-250del
XR_943416.3:n.535-253_535-250del
NM_013382.6:c.334-253_334-250del	NP_037514.2:n.334-253_334-250del
NM_013382.7:c.334-253_334-250del MANE Select	NP_037514.2:n.334-253_334-250del