Canonical Allele Identifier: CA2695216735

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914495del , CM000674.2:g.51914495del	GRCh38
NC_000012.11:g.52308279del , CM000674.1:g.52308279del	GRCh37
NC_000012.10:g.50594546del	NCBI36
NG_009549.1:g.12078del , LRG_543:g.12078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.412del	ENSP00000446724.2:p.Val138SerfsTer30
ENST00000551576.6:c.682del	ENSP00000455848.2:p.Val228SerfsTer30
ENST00000552678.2:c.682del	ENSP00000457394.2:p.Val228SerfsTer30
ENST00000388922.9:c.682del MANE Select	ENSP00000373574.4:p.Val228SerfsTer30
ENST00000388922.8:c.682del	ENSP00000373574.4:p.Val228SerfsTer30
ENST00000419526.6:c.160del	ENSP00000392492.2:p.Val54SerfsTer30
ENST00000547400.5:c.412del	ENSP00000446724.1:p.Val138SerfsTer?
ENST00000550683.5:c.724del	ENSP00000447884.1:p.Val242SerfsTer30
NM_000020.2:c.682del , LRG_543t1:c.682del	NP_000011.2:p.Val228SerfsTer30
NM_001077401.1:c.682del	NP_001070869.1:p.Val228SerfsTer30
XM_005269235.2:c.682del	XP_005269292.1:p.Val228SerfsTer30
XM_011539008.1:c.412del	XP_011537310.1:p.Val138SerfsTer30
XM_024449279.1:c.-108del	XP_024305047.1:n.-108del
NM_000020.3:c.682del MANE Select	NP_000011.2:p.Val228SerfsTer30
NM_001077401.2:c.682del	NP_001070869.1:p.Val228SerfsTer30