Canonical Allele Identifier: CA2036268616

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940771726

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914200_51914201insT , CM000674.2:g.51914200_51914201insT	GRCh38
NC_000012.11:g.52307984_52307985insT , CM000674.1:g.52307984_52307985insT	GRCh37
NC_000012.10:g.50594251_50594252insT	NCBI36
NG_009549.1:g.11783_11784insT , LRG_543:g.11783_11784insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-239_356-238insT	ENSP00000446724.2:n.356-239_356-238insT
ENST00000551576.6:c.625+127_625+128insT	ENSP00000455848.2:n.625+127_625+128insT
ENST00000552678.2:c.625+127_625+128insT	ENSP00000457394.2:n.625+127_625+128insT
ENST00000388922.9:c.625+127_625+128insT MANE Select	ENSP00000373574.4:n.625+127_625+128insT
ENST00000388922.8:c.625+127_625+128insT	ENSP00000373574.4:n.625+127_625+128insT
ENST00000419526.6:c.104-239_104-238insT	ENSP00000392492.2:n.104-239_104-238insT
ENST00000547400.5:c.356-239_356-238insT	ENSP00000446724.1:n.356-239_356-238insT
ENST00000550683.5:c.667+127_667+128insT	ENSP00000447884.1:n.667+127_667+128insT
NM_000020.2:c.625+127_625+128insT , LRG_543t1:c.625+127_625+128insT	NP_000011.2:n.625+127_625+128insT
NM_001077401.1:c.625+127_625+128insT	NP_001070869.1:n.625+127_625+128insT
XM_005269235.2:c.625+127_625+128insT	XP_005269292.1:n.625+127_625+128insT
XM_011539008.1:c.356-239_356-238insT	XP_011537310.1:n.356-239_356-238insT
XM_024449279.1:c.-164-239_-164-238insT	XP_024305047.1:n.-164-239_-164-238insT
NM_000020.3:c.625+127_625+128insT MANE Select	NP_000011.2:n.625+127_625+128insT
NM_001077401.2:c.625+127_625+128insT	NP_001070869.1:n.625+127_625+128insT