Canonical Allele Identifier: CA2515749428

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915998del , CM000674.2:g.51915998del	GRCh38
NC_000012.11:g.52309782del , CM000674.1:g.52309782del	GRCh37
NC_000012.10:g.50596049del	NCBI36
NG_009549.1:g.13581del , LRG_543:g.13581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.779-38del	ENSP00000446724.2:n.779-38del
ENST00000551576.6:c.1049-38del	ENSP00000455848.2:n.1049-38del
ENST00000552678.2:c.1049-38del	ENSP00000457394.2:n.1049-38del
ENST00000388922.9:c.1049-38del MANE Select	ENSP00000373574.4:n.1049-38del
ENST00000388922.8:c.1049-38del	ENSP00000373574.4:n.1049-38del
ENST00000419526.6:c.527-38del	ENSP00000392492.2:n.527-38del
ENST00000547632.1:n.286del
ENST00000550683.5:c.1091-38del	ENSP00000447884.1:n.1091-38del
ENST00000552678.1:c.54-38del
NM_000020.2:c.1049-38del , LRG_543t1:c.1049-38del	NP_000011.2:n.1049-38del
NM_001077401.1:c.1049-38del	NP_001070869.1:n.1049-38del
XM_005269235.2:c.1049-38del	XP_005269292.1:n.1049-38del
XM_011539008.1:c.779-38del	XP_011537310.1:n.779-38del
XM_024449279.1:c.260-38del	XP_024305047.1:n.260-38del
NM_000020.3:c.1049-38del MANE Select	NP_000011.2:n.1049-38del
NM_001077401.2:c.1049-38del	NP_001070869.1:n.1049-38del