Canonical Allele Identifier: CA2695216701

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913725_51913731dup , CM000674.2:g.51913725_51913731dup	GRCh38
NC_000012.11:g.52307509_52307515dup , CM000674.1:g.52307509_52307515dup	GRCh37
NC_000012.10:g.50593776_50593782dup	NCBI36
NG_009549.1:g.11308_11314dup , LRG_543:g.11308_11314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+375_355+381dup	ENSP00000446724.2:n.355+375_355+381dup
ENST00000551576.6:c.480_486dup	ENSP00000455848.2:p.Ile163GlnfsTer8
ENST00000552678.2:c.480_486dup	ENSP00000457394.2:p.Ile163GlnfsTer8
ENST00000388922.9:c.480_486dup MANE Select	ENSP00000373574.4:p.Ile163GlnfsTer8
ENST00000388922.8:c.480_486dup	ENSP00000373574.4:p.Ile163GlnfsTer8
ENST00000419526.6:c.104-714_104-708dup	ENSP00000392492.2:n.104-714_104-708dup
ENST00000547400.5:c.355+375_355+381dup	ENSP00000446724.1:n.355+375_355+381dup
ENST00000550683.5:c.522_528dup	ENSP00000447884.1:p.Ile177GlnfsTer8
NM_000020.2:c.480_486dup , LRG_543t1:c.480_486dup	NP_000011.2:p.Ile163GlnfsTer8
NM_001077401.1:c.480_486dup	NP_001070869.1:p.Ile163GlnfsTer8
XM_005269235.2:c.480_486dup	XP_005269292.1:p.Ile163GlnfsTer8
XM_011539008.1:c.355+375_355+381dup	XP_011537310.1:n.355+375_355+381dup
XM_024449279.1:c.-210_-204dup	XP_024305047.1:n.-210_-204dup
NM_000020.3:c.480_486dup MANE Select	NP_000011.2:p.Ile163GlnfsTer8
NM_001077401.2:c.480_486dup	NP_001070869.1:p.Ile163GlnfsTer8