Canonical Allele Identifier: CA2695216744

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915326del , CM000674.2:g.51915326del	GRCh38
NC_000012.11:g.52309110del , CM000674.1:g.52309110del	GRCh37
NC_000012.10:g.50595377del	NCBI36
NG_009549.1:g.12909del , LRG_543:g.12909del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.604del	ENSP00000446724.2:p.Gln202ArgfsTer9
ENST00000551576.6:c.874del	ENSP00000455848.2:p.Gln292ArgfsTer9
ENST00000552678.2:c.874del	ENSP00000457394.2:p.Gln292ArgfsTer9
ENST00000388922.9:c.874del MANE Select	ENSP00000373574.4:p.Gln292ArgfsTer9
ENST00000388922.8:c.874del	ENSP00000373574.4:p.Gln292ArgfsTer9
ENST00000419526.6:c.352del	ENSP00000392492.2:p.Gln118ArgfsTer9
ENST00000550683.5:c.916del	ENSP00000447884.1:p.Gln306ArgfsTer9
NM_000020.2:c.874del , LRG_543t1:c.874del	NP_000011.2:p.Gln292ArgfsTer9
NM_001077401.1:c.874del	NP_001070869.1:p.Gln292ArgfsTer9
XM_005269235.2:c.874del	XP_005269292.1:p.Gln292ArgfsTer9
XM_011539008.1:c.604del	XP_011537310.1:p.Gln202ArgfsTer9
XM_024449279.1:c.85del	XP_024305047.1:p.Gln29ArgfsTer9
NM_000020.3:c.874del MANE Select	NP_000011.2:p.Gln292ArgfsTer9
NM_001077401.2:c.874del	NP_001070869.1:p.Gln292ArgfsTer9