Canonical Allele Identifier: CA2036241969

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920858_51920859delinsAG , CM000674.2:g.51920858_51920859delinsAG	GRCh38
NC_000012.11:g.52314642_52314643delinsAG , CM000674.1:g.52314642_52314643delinsAG	GRCh37
NC_000012.10:g.50600909_50600910delinsAG	NCBI36
NG_009549.1:g.18441_18442delinsAG , LRG_543:g.18441_18442delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1207_1208delinsAG	ENSP00000446724.2:p.Ser403=
ENST00000551576.6:c.1477_1478delinsAG	ENSP00000455848.2:p.Ser493=
ENST00000388922.9:c.1477_1478delinsAG MANE Select	ENSP00000373574.4:p.Ser493=
ENST00000388922.8:c.1477_1478delinsAG	ENSP00000373574.4:p.Ser493=
ENST00000419526.6:c.955_956delinsAG	ENSP00000392492.2:p.Ser319=
ENST00000550683.5:c.1519_1520delinsAG	ENSP00000447884.1:p.Ser507=
NM_000020.2:c.1477_1478delinsAG , LRG_543t1:c.1477_1478delinsAG	NP_000011.2:p.Ser493=
NM_001077401.1:c.1477_1478delinsAG	NP_001070869.1:p.Ser493=
XM_005269235.2:c.1477_1478delinsAG	XP_005269292.1:p.Ser493=
XM_011539008.1:c.1207_1208delinsAG	XP_011537310.1:p.Ser403=
XM_024449279.1:c.688_689delinsAG	XP_024305047.1:p.Ser230=
NM_000020.3:c.1477_1478delinsAG MANE Select	NP_000011.2:p.Ser493=
NM_001077401.2:c.1477_1478delinsAG	NP_001070869.1:p.Ser493=