Canonical Allele Identifier: CA2618860708

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920931-T-TGGGGTGGGGGGGGGGGGGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920935_51920936insTGGGGGGGGGGGGGGGCGGGGG , CM000674.2:g.51920935_51920936insTGGGGGGGGGGGGGGGCGGGGG	GRCh38
NC_000012.11:g.52314719_52314720insTGGGGGGGGGGGGGGGCGGGGG , CM000674.1:g.52314719_52314720insTGGGGGGGGGGGGGGGCGGGGG	GRCh37
NC_000012.10:g.50600986_50600987insTGGGGGGGGGGGGGGGCGGGGG	NCBI36
NG_009549.1:g.18518_18519insTGGGGGGGGGGGGGGGCGGGGG , LRG_543:g.18518_18519insTGGGGGGGGGGGGGGGCGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	ENSP00000455848.2:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
ENST00000388922.9:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG MANE Select	ENSP00000373574.4:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
ENST00000388922.8:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	ENSP00000373574.4:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
ENST00000419526.6:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	ENSP00000392492.2:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
ENST00000550683.5:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	ENSP00000447884.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
NM_000020.2:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG , LRG_543t1:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	NP_000011.2:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
NM_001077401.1:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	NP_001070869.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
XM_005269235.2:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	XP_005269292.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
XM_011539008.1:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	XP_011537310.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
XM_024449279.1:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	XP_024305047.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
NM_000020.3:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG MANE Select	NP_000011.2:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG
NM_001077401.2:c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG	NP_001070869.1:n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG