Canonical Allele Identifier: CA689770194

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1421206091
• MyVariant Identifiers: chr12:g.52314981_52314982del (hg19) ; chr12:g.51921197_51921198del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921199_51921200del , CM000674.2:g.51921199_51921200del	GRCh38
NC_000012.11:g.52314983_52314984del , CM000674.1:g.52314983_52314984del	GRCh37
NC_000012.10:g.50601250_50601251del	NCBI36
NG_009549.1:g.18782_18783del , LRG_543:g.18782_18783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*306_*307del	ENSP00000455848.2:n.*306_*307del
ENST00000388922.9:c.*306_*307del MANE Select	ENSP00000373574.4:n.*306_*307del
ENST00000550683.5:c.*306_*307del	ENSP00000447884.1:n.*306_*307del
NM_000020.2:c.*306_*307del , LRG_543t1:c.*306_*307del	NP_000011.2:n.*306_*307del
NM_001077401.1:c.*306_*307del	NP_001070869.1:n.*306_*307del
XM_005269235.2:c.*306_*307del	XP_005269292.1:n.*306_*307del
XM_011539008.1:c.*306_*307del	XP_011537310.1:n.*306_*307del
XM_024449279.1:c.*306_*307del	XP_024305047.1:n.*306_*307del
NM_000020.3:c.*306_*307del MANE Select	NP_000011.2:n.*306_*307del
NM_001077401.2:c.*306_*307del	NP_001070869.1:n.*306_*307del