Canonical Allele Identifier: CA2036269495

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915379_51915383delinsCCTGG , CM000674.2:g.51915379_51915383delinsCCTGG	GRCh38
NC_000012.11:g.52309163_52309167delinsCCTGG , CM000674.1:g.52309163_52309167delinsCCTGG	GRCh37
NC_000012.10:g.50595430_50595434delinsCCTGG	NCBI36
NG_009549.1:g.12962_12966delinsCCTGG , LRG_543:g.12962_12966delinsCCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.657_661delinsCCTGG	ENSP00000446724.2:p.Gly219=
ENST00000551576.6:c.927_931delinsCCTGG	ENSP00000455848.2:p.Gly309=
ENST00000552678.2:c.927_931delinsCCTGG	ENSP00000457394.2:p.Gly309=
ENST00000388922.9:c.927_931delinsCCTGG MANE Select	ENSP00000373574.4:p.Gly309=
ENST00000388922.8:c.927_931delinsCCTGG	ENSP00000373574.4:p.Gly309=
ENST00000419526.6:c.405_409delinsCCTGG	ENSP00000392492.2:p.Gly135=
ENST00000550683.5:c.969_973delinsCCTGG	ENSP00000447884.1:p.Gly323=
NM_000020.2:c.927_931delinsCCTGG , LRG_543t1:c.927_931delinsCCTGG	NP_000011.2:p.Gly309=
NM_001077401.1:c.927_931delinsCCTGG	NP_001070869.1:p.Gly309=
XM_005269235.2:c.927_931delinsCCTGG	XP_005269292.1:p.Gly309=
XM_011539008.1:c.657_661delinsCCTGG	XP_011537310.1:p.Gly219=
XM_024449279.1:c.138_142delinsCCTGG	XP_024305047.1:p.Gly46=
NM_000020.3:c.927_931delinsCCTGG MANE Select	NP_000011.2:p.Gly309=
NM_001077401.2:c.927_931delinsCCTGG	NP_001070869.1:p.Gly309=