Canonical Allele Identifier: CA2695216683

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913280dup , CM000674.2:g.51913280dup	GRCh38
NC_000012.11:g.52307064dup , CM000674.1:g.52307064dup	GRCh37
NC_000012.10:g.50593331dup	NCBI36
NG_009549.1:g.10863dup , LRG_543:g.10863dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.285dup	ENSP00000446724.2:p.Thr96HisfsTer?
ENST00000551576.6:c.243dup	ENSP00000455848.2:p.Thr82HisfsTer?
ENST00000552678.2:c.243dup	ENSP00000457394.2:p.Thr82HisfsTer?
ENST00000388922.9:c.243dup MANE Select	ENSP00000373574.4:p.Thr82HisfsTer?
ENST00000388922.8:c.243dup	ENSP00000373574.4:p.Thr82HisfsTer?
ENST00000419526.6:c.103+745dup	ENSP00000392492.2:n.103+745dup
ENST00000547400.5:c.285dup	ENSP00000446724.1:p.Thr96HisfsTer?
ENST00000550683.5:c.285dup	ENSP00000447884.1:p.Thr96HisfsTer?
ENST00000551576.5:c.243dup	ENSP00000455848.1:p.Thr82HisfsTer?
NM_000020.2:c.243dup , LRG_543t1:c.243dup	NP_000011.2:p.Thr82HisfsTer?
NM_001077401.1:c.243dup	NP_001070869.1:p.Thr82HisfsTer?
XM_005269235.2:c.243dup	XP_005269292.1:p.Thr82HisfsTer?
XM_011539008.1:c.285dup	XP_011537310.1:p.Thr96HisfsTer?
NM_000020.3:c.243dup MANE Select	NP_000011.2:p.Thr82HisfsTer?
NM_001077401.2:c.243dup	NP_001070869.1:p.Thr82HisfsTer?