Canonical Allele Identifier: CA1139662700

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 968710
• ClinVar RCV Id: RCV001243907 ; RCV003223711
• dbSNP Id: rs1940804402

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915299_51915305delinsTT , CM000674.2:g.51915299_51915305delinsTT	GRCh38
NC_000012.11:g.52309083_52309089delinsTT , CM000674.1:g.52309083_52309089delinsTT	GRCh37
NC_000012.10:g.50595350_50595356delinsTT	NCBI36
NG_009549.1:g.12882_12888delinsTT , LRG_543:g.12882_12888delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.577_583delinsTT	ENSP00000446724.2:p.Gly193PhefsTer?
ENST00000551576.6:c.847_853delinsTT	ENSP00000455848.2:p.Gly283PhefsTer?
ENST00000552678.2:c.847_853delinsTT	ENSP00000457394.2:p.Gly283PhefsTer?
ENST00000388922.9:c.847_853delinsTT MANE Select	ENSP00000373574.4:p.Gly283PhefsTer?
ENST00000388922.8:c.847_853delinsTT	ENSP00000373574.4:p.Gly283PhefsTer?
ENST00000419526.6:c.325_331delinsTT	ENSP00000392492.2:p.Gly109PhefsTer?
ENST00000550683.5:c.889_895delinsTT	ENSP00000447884.1:p.Gly297PhefsTer?
NM_000020.2:c.847_853delinsTT , LRG_543t1:c.847_853delinsTT	NP_000011.2:p.Gly283PhefsTer?
NM_001077401.1:c.847_853delinsTT	NP_001070869.1:p.Gly283PhefsTer?
XM_005269235.2:c.847_853delinsTT	XP_005269292.1:p.Gly283PhefsTer?
XM_011539008.1:c.577_583delinsTT	XP_011537310.1:p.Gly193PhefsTer?
XM_024449279.1:c.58_64delinsTT	XP_024305047.1:p.Gly20PhefsTer?
NM_000020.3:c.847_853delinsTT MANE Select	NP_000011.2:p.Gly283PhefsTer?
NM_001077401.2:c.847_853delinsTT	NP_001070869.1:p.Gly283PhefsTer?