Canonical Allele Identifier: CA2036268745

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914323_51914331delinsGTCTGGGGT , CM000674.2:g.51914323_51914331delinsGTCTGGGGT	GRCh38
NC_000012.11:g.52308107_52308115delinsGTCTGGGGT , CM000674.1:g.52308107_52308115delinsGTCTGGGGT	GRCh37
NC_000012.10:g.50594374_50594382delinsGTCTGGGGT	NCBI36
NG_009549.1:g.11906_11914delinsGTCTGGGGT , LRG_543:g.11906_11914delinsGTCTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-116_356-108delinsGTCTGGGGT	ENSP00000446724.2:n.356-116_356-108delinsGTCTGGGGT
ENST00000551576.6:c.626-116_626-108delinsGTCTGGGGT	ENSP00000455848.2:n.626-116_626-108delinsGTCTGGGGT
ENST00000552678.2:c.626-116_626-108delinsGTCTGGGGT	ENSP00000457394.2:n.626-116_626-108delinsGTCTGGGGT
ENST00000388922.9:c.626-116_626-108delinsGTCTGGGGT MANE Select	ENSP00000373574.4:n.626-116_626-108delinsGTCTGGGGT
ENST00000388922.8:c.626-116_626-108delinsGTCTGGGGT	ENSP00000373574.4:n.626-116_626-108delinsGTCTGGGGT
ENST00000419526.6:c.104-116_104-108delinsGTCTGGGGT	ENSP00000392492.2:n.104-116_104-108delinsGTCTGGGGT
ENST00000547400.5:c.356-116_356-108delinsGTCTGGGGT	ENSP00000446724.1:n.356-116_356-108delinsGTCTGGGGT
ENST00000550683.5:c.668-116_668-108delinsGTCTGGGGT	ENSP00000447884.1:n.668-116_668-108delinsGTCTGGGGT
NM_000020.2:c.626-116_626-108delinsGTCTGGGGT , LRG_543t1:c.626-116_626-108delinsGTCTGGGGT	NP_000011.2:n.626-116_626-108delinsGTCTGGGGT
NM_001077401.1:c.626-116_626-108delinsGTCTGGGGT	NP_001070869.1:n.626-116_626-108delinsGTCTGGGGT
XM_005269235.2:c.626-116_626-108delinsGTCTGGGGT	XP_005269292.1:n.626-116_626-108delinsGTCTGGGGT
XM_011539008.1:c.356-116_356-108delinsGTCTGGGGT	XP_011537310.1:n.356-116_356-108delinsGTCTGGGGT
XM_024449279.1:c.-164-116_-164-108delinsGTCTGGGGT	XP_024305047.1:n.-164-116_-164-108delinsGTCTGGGGT
NM_000020.3:c.626-116_626-108delinsGTCTGGGGT MANE Select	NP_000011.2:n.626-116_626-108delinsGTCTGGGGT
NM_001077401.2:c.626-116_626-108delinsGTCTGGGGT	NP_001070869.1:n.626-116_626-108delinsGTCTGGGGT