Canonical Allele Identifier: CA384900277

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1401219223
• gnomAD v2: 12-52308966-G-GC
• gnomAD v3: 12-51915182-G-GC
• gnomAD v4: 12-51915182-G-GC
• MyVariant Identifiers: chr12:g.52308966_52308967insC (hg19) ; chr12:g.51915182_51915183insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915186dup , CM000674.2:g.51915186dup	GRCh38
NC_000012.11:g.52308970dup , CM000674.1:g.52308970dup	GRCh37
NC_000012.10:g.50595237dup	NCBI36
NG_009549.1:g.12769dup , LRG_543:g.12769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.503-39dup	ENSP00000446724.2:n.503-39dup
ENST00000551576.6:c.773-39dup	ENSP00000455848.2:n.773-39dup
ENST00000552678.2:c.773-39dup	ENSP00000457394.2:n.773-39dup
ENST00000388922.9:c.773-39dup MANE Select	ENSP00000373574.4:n.773-39dup
ENST00000388922.8:c.773-39dup	ENSP00000373574.4:n.773-39dup
ENST00000419526.6:c.251-39dup	ENSP00000392492.2:n.251-39dup
ENST00000550683.5:c.815-39dup	ENSP00000447884.1:n.815-39dup
NM_000020.2:c.773-39dup , LRG_543t1:c.773-39dup	NP_000011.2:n.773-39dup
NM_001077401.1:c.773-39dup	NP_001070869.1:n.773-39dup
XM_005269235.2:c.773-39dup	XP_005269292.1:n.773-39dup
XM_011539008.1:c.503-39dup	XP_011537310.1:n.503-39dup
XM_024449279.1:c.-17-39dup	XP_024305047.1:n.-17-39dup
NM_000020.3:c.773-39dup MANE Select	NP_000011.2:n.773-39dup
NM_001077401.2:c.773-39dup	NP_001070869.1:n.773-39dup