Canonical Allele Identifier: CA2618860417

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920921-T-TCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920921_51920922insCGGG , CM000674.2:g.51920921_51920922insCGGG	GRCh38
NC_000012.11:g.52314705_52314706insCGGG , CM000674.1:g.52314705_52314706insCGGG	GRCh37
NC_000012.10:g.50600972_50600973insCGGG	NCBI36
NG_009549.1:g.18504_18505insCGGG , LRG_543:g.18504_18505insCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*28_*29insCGGG	ENSP00000455848.2:n.*28_*29insCGGG
ENST00000388922.9:c.*28_*29insCGGG MANE Select	ENSP00000373574.4:n.*28_*29insCGGG
ENST00000388922.8:c.*28_*29insCGGG	ENSP00000373574.4:n.*28_*29insCGGG
ENST00000419526.6:c.*28_*29insCGGG	ENSP00000392492.2:n.*28_*29insCGGG
ENST00000550683.5:c.*28_*29insCGGG	ENSP00000447884.1:n.*28_*29insCGGG
NM_000020.2:c.*28_*29insCGGG , LRG_543t1:c.*28_*29insCGGG	NP_000011.2:n.*28_*29insCGGG
NM_001077401.1:c.*28_*29insCGGG	NP_001070869.1:n.*28_*29insCGGG
XM_005269235.2:c.*28_*29insCGGG	XP_005269292.1:n.*28_*29insCGGG
XM_011539008.1:c.*28_*29insCGGG	XP_011537310.1:n.*28_*29insCGGG
XM_024449279.1:c.*28_*29insCGGG	XP_024305047.1:n.*28_*29insCGGG
NM_000020.3:c.*28_*29insCGGG MANE Select	NP_000011.2:n.*28_*29insCGGG
NM_001077401.2:c.*28_*29insCGGG	NP_001070869.1:n.*28_*29insCGGG