Canonical Allele Identifier: CA323690

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 212807
• ClinVar RCV Id: RCV000199151
• dbSNP Id: rs863223417
• MyVariant Identifiers: chr12:g.52309267_52309268dupGT (hg19) ; chr12:g.51915483_51915484dupGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915483_51915484dup , CM000674.2:g.51915483_51915484dup	GRCh38
NC_000012.11:g.52309267_52309268dup , CM000674.1:g.52309267_52309268dup	GRCh37
NC_000012.10:g.50595534_50595535dup	NCBI36
NG_009549.1:g.13066_13067dup , LRG_543:g.13066_13067dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.761_762dup	ENSP00000446724.2:p.Cys255ValfsTer10
ENST00000551576.6:c.1031_1032dup	ENSP00000455848.2:p.Cys345ValfsTer10
ENST00000552678.2:c.1031_1032dup	ENSP00000457394.2:p.Cys345ValfsTer10
ENST00000388922.9:c.1031_1032dup MANE Select	ENSP00000373574.4:p.Cys345ValfsTer10
ENST00000388922.8:c.1031_1032dup	ENSP00000373574.4:p.Cys345ValfsTer10
ENST00000419526.6:c.509_510dup	ENSP00000392492.2:p.Cys171ValfsTer10
ENST00000550683.5:c.1073_1074dup	ENSP00000447884.1:p.Cys359ValfsTer10
ENST00000552678.1:c.36_37dup
NM_000020.2:c.1031_1032dup , LRG_543t1:c.1031_1032dup	NP_000011.2:p.Cys345ValfsTer10
NM_001077401.1:c.1031_1032dup	NP_001070869.1:p.Cys345ValfsTer10
XM_005269235.2:c.1031_1032dup	XP_005269292.1:p.Cys345ValfsTer10
XM_011539008.1:c.761_762dup	XP_011537310.1:p.Cys255ValfsTer10
XM_024449279.1:c.242_243dup	XP_024305047.1:p.Cys82ValfsTer10
NM_000020.3:c.1031_1032dup MANE Select	NP_000011.2:p.Cys345ValfsTer10
NM_001077401.2:c.1031_1032dup	NP_001070869.1:p.Cys345ValfsTer10