Canonical Allele Identifier: CA916081672

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 853597
• ClinVar RCV Id: RCV001058436
• dbSNP Id: rs1940835452

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916152_51916166del , CM000674.2:g.51916152_51916166del	GRCh38
NC_000012.11:g.52309936_52309950del , CM000674.1:g.52309936_52309950del	GRCh37
NC_000012.10:g.50596203_50596217del	NCBI36
NG_009549.1:g.13735_13749del , LRG_543:g.13735_13749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.895_909del	ENSP00000446724.2:p.Cys299_Tyr303del
ENST00000551576.6:c.1165_1179del	ENSP00000455848.2:p.Cys389_Tyr393del
ENST00000552678.2:c.1165_1179del	ENSP00000457394.2:p.Cys389_Tyr393del
ENST00000388922.9:c.1165_1179del MANE Select	ENSP00000373574.4:p.Cys389_Tyr393del
ENST00000388922.8:c.1165_1179del	ENSP00000373574.4:p.Cys389_Tyr393del
ENST00000419526.6:c.643_657del	ENSP00000392492.2:p.Cys215_Tyr219del
ENST00000547632.1:n.440_454del
ENST00000550683.5:c.1207_1221del	ENSP00000447884.1:p.Cys403_Tyr407del
ENST00000552678.1:c.170_184del
NM_000020.2:c.1165_1179del , LRG_543t1:c.1165_1179del	NP_000011.2:p.Cys389_Tyr393del
NM_001077401.1:c.1165_1179del	NP_001070869.1:p.Cys389_Tyr393del
XM_005269235.2:c.1165_1179del	XP_005269292.1:p.Cys389_Tyr393del
XM_011539008.1:c.895_909del	XP_011537310.1:p.Cys299_Tyr303del
XM_024449279.1:c.376_390del	XP_024305047.1:p.Cys126_Tyr130del
NM_000020.3:c.1165_1179del MANE Select	NP_000011.2:p.Cys389_Tyr393del
NM_001077401.2:c.1165_1179del	NP_001070869.1:p.Cys389_Tyr393del