Canonical Allele Identifier: CA2695216680

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913255_51913256insAA , CM000674.2:g.51913255_51913256insAA	GRCh38
NC_000012.11:g.52307039_52307040insAA , CM000674.1:g.52307039_52307040insAA	GRCh37
NC_000012.10:g.50593306_50593307insAA	NCBI36
NG_009549.1:g.10838_10839insAA , LRG_543:g.10838_10839insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.260_261insAA	ENSP00000446724.2:p.His87GlnfsTer?
ENST00000551576.6:c.218_219insAA	ENSP00000455848.2:p.His73GlnfsTer?
ENST00000552678.2:c.218_219insAA	ENSP00000457394.2:p.His73GlnfsTer?
ENST00000388922.9:c.218_219insAA MANE Select	ENSP00000373574.4:p.His73GlnfsTer?
ENST00000388922.8:c.218_219insAA	ENSP00000373574.4:p.His73GlnfsTer?
ENST00000419526.6:c.103+720_103+721insAA	ENSP00000392492.2:n.103+720_103+721insAA
ENST00000547400.5:c.260_261insAA	ENSP00000446724.1:p.His87GlnfsTer?
ENST00000550683.5:c.260_261insAA	ENSP00000447884.1:p.His87GlnfsTer?
ENST00000551576.5:c.218_219insAA	ENSP00000455848.1:p.His73GlnfsTer?
NM_000020.2:c.218_219insAA , LRG_543t1:c.218_219insAA	NP_000011.2:p.His73GlnfsTer?
NM_001077401.1:c.218_219insAA	NP_001070869.1:p.His73GlnfsTer?
XM_005269235.2:c.218_219insAA	XP_005269292.1:p.His73GlnfsTer?
XM_011539008.1:c.260_261insAA	XP_011537310.1:p.His87GlnfsTer?
NM_000020.3:c.218_219insAA MANE Select	NP_000011.2:p.His73GlnfsTer?
NM_001077401.2:c.218_219insAA	NP_001070869.1:p.His73GlnfsTer?