Canonical Allele Identifier: CA2036268812

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914378_51914380delinsGGG , CM000674.2:g.51914378_51914380delinsGGG	GRCh38
NC_000012.11:g.52308162_52308164delinsGGG , CM000674.1:g.52308162_52308164delinsGGG	GRCh37
NC_000012.10:g.50594429_50594431delinsGGG	NCBI36
NG_009549.1:g.11961_11963delinsGGG , LRG_543:g.11961_11963delinsGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-61_356-59delinsGGG	ENSP00000446724.2:n.356-61_356-59delinsGGG
ENST00000551576.6:c.626-61_626-59delinsGGG	ENSP00000455848.2:n.626-61_626-59delinsGGG
ENST00000552678.2:c.626-61_626-59delinsGGG	ENSP00000457394.2:n.626-61_626-59delinsGGG
ENST00000388922.9:c.626-61_626-59delinsGGG MANE Select	ENSP00000373574.4:n.626-61_626-59delinsGGG
ENST00000388922.8:c.626-61_626-59delinsGGG	ENSP00000373574.4:n.626-61_626-59delinsGGG
ENST00000419526.6:c.104-61_104-59delinsGGG	ENSP00000392492.2:n.104-61_104-59delinsGGG
ENST00000547400.5:c.356-61_356-59delinsGGG	ENSP00000446724.1:n.356-61_356-59delinsGGG
ENST00000550683.5:c.668-61_668-59delinsGGG	ENSP00000447884.1:n.668-61_668-59delinsGGG
NM_000020.2:c.626-61_626-59delinsGGG , LRG_543t1:c.626-61_626-59delinsGGG	NP_000011.2:n.626-61_626-59delinsGGG
NM_001077401.1:c.626-61_626-59delinsGGG	NP_001070869.1:n.626-61_626-59delinsGGG
XM_005269235.2:c.626-61_626-59delinsGGG	XP_005269292.1:n.626-61_626-59delinsGGG
XM_011539008.1:c.356-61_356-59delinsGGG	XP_011537310.1:n.356-61_356-59delinsGGG
XM_024449279.1:c.-164-61_-164-59delinsGGG	XP_024305047.1:n.-164-61_-164-59delinsGGG
NM_000020.3:c.626-61_626-59delinsGGG MANE Select	NP_000011.2:n.626-61_626-59delinsGGG
NM_001077401.2:c.626-61_626-59delinsGGG	NP_001070869.1:n.626-61_626-59delinsGGG