Canonical Allele Identifier: CA2695216698

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913721_51913722del , CM000674.2:g.51913721_51913722del	GRCh38
NC_000012.11:g.52307505_52307506del , CM000674.1:g.52307505_52307506del	GRCh37
NC_000012.10:g.50593772_50593773del	NCBI36
NG_009549.1:g.11304_11305del , LRG_543:g.11304_11305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+371_355+372del	ENSP00000446724.2:n.355+371_355+372del
ENST00000551576.6:c.476_477del	ENSP00000455848.2:p.Glu159ValfsTer9
ENST00000552678.2:c.476_477del	ENSP00000457394.2:p.Glu159ValfsTer9
ENST00000388922.9:c.476_477del MANE Select	ENSP00000373574.4:p.Glu159ValfsTer9
ENST00000388922.8:c.476_477del	ENSP00000373574.4:p.Glu159ValfsTer9
ENST00000419526.6:c.104-718_104-717del	ENSP00000392492.2:n.104-718_104-717del
ENST00000547400.5:c.355+371_355+372del	ENSP00000446724.1:n.355+371_355+372del
ENST00000550683.5:c.518_519del	ENSP00000447884.1:p.Glu173ValfsTer9
NM_000020.2:c.476_477del , LRG_543t1:c.476_477del	NP_000011.2:p.Glu159ValfsTer9
NM_001077401.1:c.476_477del	NP_001070869.1:p.Glu159ValfsTer9
XM_005269235.2:c.476_477del	XP_005269292.1:p.Glu159ValfsTer9
XM_011539008.1:c.355+371_355+372del	XP_011537310.1:n.355+371_355+372del
XM_024449279.1:c.-214_-213del	XP_024305047.1:n.-214_-213del
NM_000020.3:c.476_477del MANE Select	NP_000011.2:p.Glu159ValfsTer9
NM_001077401.2:c.476_477del	NP_001070869.1:p.Glu159ValfsTer9