Canonical Allele Identifier: CA912996266

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52307534_52307541del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913753_51913760del , CM000674.2:g.51913753_51913760del	GRCh38
NC_000012.11:g.52307537_52307544del , CM000674.1:g.52307537_52307544del	GRCh37
NC_000012.10:g.50593804_50593811del	NCBI36
NG_009549.1:g.11336_11343del , LRG_543:g.11336_11343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+403_355+410del	ENSP00000446724.2:n.355+403_355+410del
ENST00000551576.6:c.508_515del	ENSP00000455848.2:p.Gly170HisfsTer9
ENST00000552678.2:c.508_515del	ENSP00000457394.2:p.Gly170HisfsTer9
ENST00000388922.9:c.508_515del MANE Select	ENSP00000373574.4:p.Gly170HisfsTer9
ENST00000388922.8:c.508_515del	ENSP00000373574.4:p.Gly170HisfsTer9
ENST00000419526.6:c.104-686_104-679del	ENSP00000392492.2:n.104-686_104-679del
ENST00000547400.5:c.355+403_355+410del	ENSP00000446724.1:n.355+403_355+410del
ENST00000550683.5:c.550_557del	ENSP00000447884.1:p.Gly184HisfsTer9
NM_000020.2:c.508_515del , LRG_543t1:c.508_515del	NP_000011.2:p.Gly170HisfsTer9
NM_001077401.1:c.508_515del	NP_001070869.1:p.Gly170HisfsTer9
XM_005269235.2:c.508_515del	XP_005269292.1:p.Gly170HisfsTer9
XM_011539008.1:c.355+403_355+410del	XP_011537310.1:n.355+403_355+410del
XM_024449279.1:c.-182_-175del	XP_024305047.1:n.-182_-175del
NM_000020.3:c.508_515del MANE Select	NP_000011.2:p.Gly170HisfsTer9
NM_001077401.2:c.508_515del	NP_001070869.1:p.Gly170HisfsTer9