Canonical Allele Identifier: CA2036268838

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914387_51914388delinsCA , CM000674.2:g.51914387_51914388delinsCA	GRCh38
NC_000012.11:g.52308171_52308172delinsCA , CM000674.1:g.52308171_52308172delinsCA	GRCh37
NC_000012.10:g.50594438_50594439delinsCA	NCBI36
NG_009549.1:g.11970_11971delinsCA , LRG_543:g.11970_11971delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-52_356-51delinsCA	ENSP00000446724.2:n.356-52_356-51delinsCA
ENST00000551576.6:c.626-52_626-51delinsCA	ENSP00000455848.2:n.626-52_626-51delinsCA
ENST00000552678.2:c.626-52_626-51delinsCA	ENSP00000457394.2:n.626-52_626-51delinsCA
ENST00000388922.9:c.626-52_626-51delinsCA MANE Select	ENSP00000373574.4:n.626-52_626-51delinsCA
ENST00000388922.8:c.626-52_626-51delinsCA	ENSP00000373574.4:n.626-52_626-51delinsCA
ENST00000419526.6:c.104-52_104-51delinsCA	ENSP00000392492.2:n.104-52_104-51delinsCA
ENST00000547400.5:c.356-52_356-51delinsCA	ENSP00000446724.1:n.356-52_356-51delinsCA
ENST00000550683.5:c.668-52_668-51delinsCA	ENSP00000447884.1:n.668-52_668-51delinsCA
NM_000020.2:c.626-52_626-51delinsCA , LRG_543t1:c.626-52_626-51delinsCA	NP_000011.2:n.626-52_626-51delinsCA
NM_001077401.1:c.626-52_626-51delinsCA	NP_001070869.1:n.626-52_626-51delinsCA
XM_005269235.2:c.626-52_626-51delinsCA	XP_005269292.1:n.626-52_626-51delinsCA
XM_011539008.1:c.356-52_356-51delinsCA	XP_011537310.1:n.356-52_356-51delinsCA
XM_024449279.1:c.-164-52_-164-51delinsCA	XP_024305047.1:n.-164-52_-164-51delinsCA
NM_000020.3:c.626-52_626-51delinsCA MANE Select	NP_000011.2:n.626-52_626-51delinsCA
NM_001077401.2:c.626-52_626-51delinsCA	NP_001070869.1:n.626-52_626-51delinsCA