Canonical Allele Identifier: CA6573185

Gene: ACVRL1

Linked Data

• dbSNP Id: rs764127369
• ExAC: 12:52314714 CTGGGGGGG / C
• gnomAD v2: 12-52314714-CTGGGGGGG-C
• gnomAD v3: 12-51920930-CTGGGGGGG-C
• gnomAD v4: 12-51920930-CTGGGGGGG-C
• MyVariant Identifiers: chr12:g.52314715_52314722del (hg19) ; chr12:g.51920932_51920939del (hg38) ; chr12:g.51920931_51920938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920938_51920945del , CM000674.2:g.51920938_51920945del	GRCh38
NC_000012.11:g.52314722_52314729del , CM000674.1:g.52314722_52314729del	GRCh37
NC_000012.10:g.50600989_50600996del	NCBI36
NG_009549.1:g.18521_18528del , LRG_543:g.18521_18528del

Transcript Alleles

HGVS	Amino-acid change
ENST00000551576.6:c.*45_*52del	ENSP00000455848.2:n.*45_*52del
ENST00000388922.9:c.*45_*52del MANE Select	ENSP00000373574.4:n.*45_*52del
ENST00000388922.8:c.*45_*52del	ENSP00000373574.4:n.*45_*52del
ENST00000419526.6:c.*45_*52del	ENSP00000392492.2:n.*45_*52del
ENST00000550683.5:c.*45_*52del	ENSP00000447884.1:n.*45_*52del
NM_000020.2:c.*45_*52del , LRG_543t1:c.*45_*52del	NP_000011.2:n.*45_*52del
NM_001077401.1:c.*45_*52del	NP_001070869.1:n.*45_*52del
XM_005269235.2:c.*45_*52del	XP_005269292.1:n.*45_*52del
XM_011539008.1:c.*45_*52del	XP_011537310.1:n.*45_*52del
XM_024449279.1:c.*45_*52del	XP_024305047.1:n.*45_*52del
NM_000020.3:c.*45_*52del MANE Select	NP_000011.2:n.*45_*52del
NM_001077401.2:c.*45_*52del	NP_001070869.1:n.*45_*52del