Canonical Allele Identifier: CA2695216734

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920834dup , CM000674.2:g.51920834dup	GRCh38
NC_000012.11:g.52314618dup , CM000674.1:g.52314618dup	GRCh37
NC_000012.10:g.50600885dup	NCBI36
NG_009549.1:g.18417dup , LRG_543:g.18417dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1183dup	ENSP00000446724.2:p.Ile395AsnfsTer9
ENST00000551576.6:c.1453dup	ENSP00000455848.2:p.Ile485AsnfsTer9
ENST00000388922.9:c.1453dup MANE Select	ENSP00000373574.4:p.Ile485AsnfsTer9
ENST00000388922.8:c.1453dup	ENSP00000373574.4:p.Ile485AsnfsTer9
ENST00000419526.6:c.931dup	ENSP00000392492.2:p.Ile311AsnfsTer9
ENST00000550683.5:c.1495dup	ENSP00000447884.1:p.Ile499AsnfsTer9
NM_000020.2:c.1453dup , LRG_543t1:c.1453dup	NP_000011.2:p.Ile485AsnfsTer9
NM_001077401.1:c.1453dup	NP_001070869.1:p.Ile485AsnfsTer9
XM_005269235.2:c.1453dup	XP_005269292.1:p.Ile485AsnfsTer9
XM_011539008.1:c.1183dup	XP_011537310.1:p.Ile395AsnfsTer9
XM_024449279.1:c.664dup	XP_024305047.1:p.Ile222AsnfsTer9
NM_000020.3:c.1453dup MANE Select	NP_000011.2:p.Ile485AsnfsTer9
NM_001077401.2:c.1453dup	NP_001070869.1:p.Ile485AsnfsTer9