Canonical Allele Identifier: CA2842769066

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920855dup , CM000674.2:g.51920855dup	GRCh38
NC_000012.11:g.52314639dup , CM000674.1:g.52314639dup	GRCh37
NC_000012.10:g.50600906dup	NCBI36
NG_009549.1:g.18438dup , LRG_543:g.18438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1204dup	ENSP00000446724.2:p.Ile402AsnfsTer2
ENST00000551576.6:c.1474dup	ENSP00000455848.2:p.Ile492AsnfsTer2
ENST00000388922.9:c.1474dup MANE Select	ENSP00000373574.4:p.Ile492AsnfsTer2
ENST00000388922.8:c.1474dup	ENSP00000373574.4:p.Ile492AsnfsTer2
ENST00000419526.6:c.952dup	ENSP00000392492.2:p.Ile318AsnfsTer2
ENST00000550683.5:c.1516dup	ENSP00000447884.1:p.Ile506AsnfsTer2
NM_000020.2:c.1474dup , LRG_543t1:c.1474dup	NP_000011.2:p.Ile492AsnfsTer2
NM_001077401.1:c.1474dup	NP_001070869.1:p.Ile492AsnfsTer2
XM_005269235.2:c.1474dup	XP_005269292.1:p.Ile492AsnfsTer2
XM_011539008.1:c.1204dup	XP_011537310.1:p.Ile402AsnfsTer2
XM_024449279.1:c.685dup	XP_024305047.1:p.Ile229AsnfsTer2
NM_000020.3:c.1474dup MANE Select	NP_000011.2:p.Ile492AsnfsTer2
NM_001077401.2:c.1474dup	NP_001070869.1:p.Ile492AsnfsTer2