Canonical Allele Identifier: CA2795983358

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913771dup , CM000674.2:g.51913771dup	GRCh38
NC_000012.11:g.52307555dup , CM000674.1:g.52307555dup	GRCh37
NC_000012.10:g.50593822dup	NCBI36
NG_009549.1:g.11354dup , LRG_543:g.11354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+421dup	ENSP00000446724.2:n.355+421dup
ENST00000551576.6:c.525+1dup
ENST00000552678.2:c.525+1dup
ENST00000388922.9:c.525+1dup
ENST00000388922.8:c.525+1dup
ENST00000419526.6:c.104-668dup	ENSP00000392492.2:n.104-668dup
ENST00000547400.5:c.355+421dup	ENSP00000446724.1:n.355+421dup
ENST00000550683.5:c.567+1dup
NM_000020.2:c.525+1dup , LRG_543t1:c.525+1dup
NM_001077401.1:c.525+1dup
XM_005269235.2:c.525+1dup
XM_011539008.1:c.355+421dup	XP_011537310.1:n.355+421dup
XM_024449279.1:c.-165+1dup
NM_000020.3:c.525+1dup
NM_001077401.2:c.525+1dup