Canonical Allele Identifier: CA2580083781

Gene: HEPACAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124923786_124923787delinsCA , CM000673.2:g.124923786_124923787delinsCA	GRCh38
NC_000011.9:g.124793682_124793683delinsCA , CM000673.1:g.124793682_124793683delinsCA	GRCh37
NC_000011.8:g.124298892_124298893delinsCA	NCBI36
NG_029603.1:g.17626_17627delinsTG

Transcript Alleles

HGVS	Amino-acid Change
NM_152722.5:c.651_652delinsTG MANE Select	NP_689935.2:p.Met218Val
ENST00000298251.5:c.651_652delinsTG MANE Select	ENSP00000298251.4:p.Met218Val
NM_152722.4:c.651_652delinsTG	NP_689935.2:p.Met218Val
ENST00000298251.4:c.651_652delinsTG	ENSP00000298251.4:p.Met218Val
ENST00000526273.1:n.423_424delinsTG
ENST00000703807.1:c.651_652delinsTG	ENSP00000515485.1:p.Met218Val
XM_005271449.1:c.651_652delinsTG	XP_005271506.1:p.Met218Val
XM_005271449.2:c.651_652delinsTG	XP_005271506.1:p.Met218Val
XM_006718786.1:c.651_652delinsTG	XP_006718849.1:p.Met218Val
XM_011542669.1:c.651_652delinsTG	XP_011540971.1:p.Met218Val
XM_017017361.1:c.651_652delinsTG	XP_016872850.1:p.Met218Val
XR_001748429.2:n.325-19614_325-19613delinsCA