Canonical Allele Identifier: CA2842605619

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913109del , CM000674.2:g.51913109del	GRCh38
NC_000012.11:g.52306893del , CM000674.1:g.52306893del	GRCh37
NC_000012.10:g.50593160del	NCBI36
NG_009549.1:g.10692del , LRG_543:g.10692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.114del	ENSP00000446724.2:p.Lys39SerfsTer8
ENST00000551576.6:c.72del	ENSP00000455848.2:p.Lys25SerfsTer8
ENST00000552678.2:c.72del	ENSP00000457394.2:p.Lys25SerfsTer8
ENST00000388922.9:c.72del MANE Select	ENSP00000373574.4:p.Lys25SerfsTer8
ENST00000388922.8:c.72del	ENSP00000373574.4:p.Lys25SerfsTer8
ENST00000419526.6:c.103+574del	ENSP00000392492.2:n.103+574del
ENST00000547400.5:c.114del	ENSP00000446724.1:p.Lys39SerfsTer8
ENST00000550683.5:c.114del	ENSP00000447884.1:p.Lys39SerfsTer8
ENST00000551576.5:c.72del	ENSP00000455848.1:p.Lys25SerfsTer8
NM_000020.2:c.72del , LRG_543t1:c.72del	NP_000011.2:p.Lys25SerfsTer8
NM_001077401.1:c.72del	NP_001070869.1:p.Lys25SerfsTer8
XM_005269235.2:c.72del	XP_005269292.1:p.Lys25SerfsTer8
XM_011539008.1:c.114del	XP_011537310.1:p.Lys39SerfsTer8
NM_000020.3:c.72del MANE Select	NP_000011.2:p.Lys25SerfsTer8
NM_001077401.2:c.72del	NP_001070869.1:p.Lys25SerfsTer8