Canonical Allele Identifier: CA915948524

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 737888
• ClinVar RCV Id: RCV001401063
• dbSNP Id: rs1592224196

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915379_51915380delinsAT , CM000674.2:g.51915379_51915380delinsAT	GRCh38
NC_000012.11:g.52309163_52309164delinsAT , CM000674.1:g.52309163_52309164delinsAT	GRCh37
NC_000012.10:g.50595430_50595431delinsAT	NCBI36
NG_009549.1:g.12962_12963delinsAT , LRG_543:g.12962_12963delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.657_658delinsAT	ENSP00000446724.2:p.Gly219=
ENST00000551576.6:c.927_928delinsAT	ENSP00000455848.2:p.Gly309=
ENST00000552678.2:c.927_928delinsAT	ENSP00000457394.2:p.Gly309=
ENST00000388922.9:c.927_928delinsAT MANE Select	ENSP00000373574.4:p.Gly309=
ENST00000388922.8:c.927_928delinsAT	ENSP00000373574.4:p.Gly309=
ENST00000419526.6:c.405_406delinsAT	ENSP00000392492.2:p.Gly135=
ENST00000550683.5:c.969_970delinsAT	ENSP00000447884.1:p.Gly323=
NM_000020.2:c.927_928delinsAT , LRG_543t1:c.927_928delinsAT	NP_000011.2:p.Gly309=
NM_001077401.1:c.927_928delinsAT	NP_001070869.1:p.Gly309=
XM_005269235.2:c.927_928delinsAT	XP_005269292.1:p.Gly309=
XM_011539008.1:c.657_658delinsAT	XP_011537310.1:p.Gly219=
XM_024449279.1:c.138_139delinsAT	XP_024305047.1:p.Gly46=
NM_000020.3:c.927_928delinsAT MANE Select	NP_000011.2:p.Gly309=
NM_001077401.2:c.927_928delinsAT	NP_001070869.1:p.Gly309=