Canonical Allele Identifier: CA645594554

Gene: ACVRL1

Linked Data

• COSMIC: COSM290936

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916125_51916126delinsTG , CM000674.2:g.51916125_51916126delinsTG	GRCh38
NC_000012.11:g.52309909_52309910delinsTG , CM000674.1:g.52309909_52309910delinsTG	GRCh37
NC_000012.10:g.50596176_50596177delinsTG	NCBI36
NG_009549.1:g.13708_13709delinsTG , LRG_543:g.13708_13709delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.868_869delinsTG	ENSP00000446724.2:p.Val290Trp
ENST00000551576.6:c.1138_1139delinsTG	ENSP00000455848.2:p.Val380Trp
ENST00000552678.2:c.1138_1139delinsTG	ENSP00000457394.2:p.Val380Trp
ENST00000388922.9:c.1138_1139delinsTG MANE Select	ENSP00000373574.4:p.Val380Trp
ENST00000388922.8:c.1138_1139delinsTG	ENSP00000373574.4:p.Val380Trp
ENST00000419526.6:c.616_617delinsTG	ENSP00000392492.2:p.Val206Trp
ENST00000547632.1:n.413_414delinsTG
ENST00000550683.5:c.1180_1181delinsTG	ENSP00000447884.1:p.Val394Trp
ENST00000552678.1:c.143_144delinsTG
NM_000020.2:c.1138_1139delinsTG , LRG_543t1:c.1138_1139delinsTG	NP_000011.2:p.Val380Trp
NM_001077401.1:c.1138_1139delinsTG	NP_001070869.1:p.Val380Trp
XM_005269235.2:c.1138_1139delinsTG	XP_005269292.1:p.Val380Trp
XM_011539008.1:c.868_869delinsTG	XP_011537310.1:p.Val290Trp
XM_024449279.1:c.349_350delinsTG	XP_024305047.1:p.Val117Trp
NM_000020.3:c.1138_1139delinsTG MANE Select	NP_000011.2:p.Val380Trp
NM_001077401.2:c.1138_1139delinsTG	NP_001070869.1:p.Val380Trp