Canonical Allele Identifier: CA2036236303

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1046506
• ClinVar RCV Id: RCV001351071
• dbSNP Id: rs1940814416

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915503_51915504delinsTT , CM000674.2:g.51915503_51915504delinsTT	GRCh38
NC_000012.11:g.52309287_52309288delinsTT , CM000674.1:g.52309287_52309288delinsTT	GRCh37
NC_000012.10:g.50595554_50595555delinsTT	NCBI36
NG_009549.1:g.13086_13087delinsTT , LRG_543:g.13086_13087delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.778+3_778+4delinsTT	ENSP00000446724.2:n.778+3_778+4delinsTT
ENST00000551576.6:c.1048+3_1048+4delinsTT	ENSP00000455848.2:n.1048+3_1048+4delinsTT
ENST00000552678.2:c.1048+3_1048+4delinsTT	ENSP00000457394.2:n.1048+3_1048+4delinsTT
ENST00000388922.9:c.1048+3_1048+4delinsTT MANE Select	ENSP00000373574.4:n.1048+3_1048+4delinsTT
ENST00000388922.8:c.1048+3_1048+4delinsTT	ENSP00000373574.4:n.1048+3_1048+4delinsTT
ENST00000419526.6:c.526+3_526+4delinsTT	ENSP00000392492.2:n.526+3_526+4delinsTT
ENST00000550683.5:c.1090+3_1090+4delinsTT	ENSP00000447884.1:n.1090+3_1090+4delinsTT
ENST00000552678.1:c.53+3_53+4delinsTT
NM_000020.2:c.1048+3_1048+4delinsTT , LRG_543t1:c.1048+3_1048+4delinsTT	NP_000011.2:n.1048+3_1048+4delinsTT
NM_001077401.1:c.1048+3_1048+4delinsTT	NP_001070869.1:n.1048+3_1048+4delinsTT
XM_005269235.2:c.1048+3_1048+4delinsTT	XP_005269292.1:n.1048+3_1048+4delinsTT
XM_011539008.1:c.778+3_778+4delinsTT	XP_011537310.1:n.778+3_778+4delinsTT
XM_024449279.1:c.259+3_259+4delinsTT	XP_024305047.1:n.259+3_259+4delinsTT
NM_000020.3:c.1048+3_1048+4delinsTT MANE Select	NP_000011.2:n.1048+3_1048+4delinsTT
NM_001077401.2:c.1048+3_1048+4delinsTT	NP_001070869.1:n.1048+3_1048+4delinsTT