Canonical Allele Identifier: CA2036267155

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913269_51913270delinsAG , CM000674.2:g.51913269_51913270delinsAG	GRCh38
NC_000012.11:g.52307053_52307054delinsAG , CM000674.1:g.52307053_52307054delinsAG	GRCh37
NC_000012.10:g.50593320_50593321delinsAG	NCBI36
NG_009549.1:g.10852_10853delinsAG , LRG_543:g.10852_10853delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.274_275delinsAG	ENSP00000446724.2:p.Arg92=
ENST00000551576.6:c.232_233delinsAG	ENSP00000455848.2:p.Arg78=
ENST00000552678.2:c.232_233delinsAG	ENSP00000457394.2:p.Arg78=
ENST00000388922.9:c.232_233delinsAG MANE Select	ENSP00000373574.4:p.Arg78=
ENST00000388922.8:c.232_233delinsAG	ENSP00000373574.4:p.Arg78=
ENST00000419526.6:c.103+734_103+735delinsAG	ENSP00000392492.2:n.103+734_103+735delinsAG
ENST00000547400.5:c.274_275delinsAG	ENSP00000446724.1:p.Arg92=
ENST00000550683.5:c.274_275delinsAG	ENSP00000447884.1:p.Arg92=
ENST00000551576.5:c.232_233delinsAG	ENSP00000455848.1:p.Arg78=
NM_000020.2:c.232_233delinsAG , LRG_543t1:c.232_233delinsAG	NP_000011.2:p.Arg78=
NM_001077401.1:c.232_233delinsAG	NP_001070869.1:p.Arg78=
XM_005269235.2:c.232_233delinsAG	XP_005269292.1:p.Arg78=
XM_011539008.1:c.274_275delinsAG	XP_011537310.1:p.Arg92=
NM_000020.3:c.232_233delinsAG MANE Select	NP_000011.2:p.Arg78=
NM_001077401.2:c.232_233delinsAG	NP_001070869.1:p.Arg78=