Canonical Allele Identifier: CA2618860816

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920932-G-GGGGGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920937_51920938insTTGGGGG , CM000674.2:g.51920937_51920938insTTGGGGG	GRCh38
NC_000012.11:g.52314721_52314722insTTGGGGG , CM000674.1:g.52314721_52314722insTTGGGGG	GRCh37
NC_000012.10:g.50600988_50600989insTTGGGGG	NCBI36
NG_009549.1:g.18520_18521insTTGGGGG , LRG_543:g.18520_18521insTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*44_*45insTTGGGGG	ENSP00000455848.2:n.*44_*45insTTGGGGG
ENST00000388922.9:c.*44_*45insTTGGGGG MANE Select	ENSP00000373574.4:n.*44_*45insTTGGGGG
ENST00000388922.8:c.*44_*45insTTGGGGG	ENSP00000373574.4:n.*44_*45insTTGGGGG
ENST00000419526.6:c.*44_*45insTTGGGGG	ENSP00000392492.2:n.*44_*45insTTGGGGG
ENST00000550683.5:c.*44_*45insTTGGGGG	ENSP00000447884.1:n.*44_*45insTTGGGGG
NM_000020.2:c.*44_*45insTTGGGGG , LRG_543t1:c.*44_*45insTTGGGGG	NP_000011.2:n.*44_*45insTTGGGGG
NM_001077401.1:c.*44_*45insTTGGGGG	NP_001070869.1:n.*44_*45insTTGGGGG
XM_005269235.2:c.*44_*45insTTGGGGG	XP_005269292.1:n.*44_*45insTTGGGGG
XM_011539008.1:c.*44_*45insTTGGGGG	XP_011537310.1:n.*44_*45insTTGGGGG
XM_024449279.1:c.*44_*45insTTGGGGG	XP_024305047.1:n.*44_*45insTTGGGGG
NM_000020.3:c.*44_*45insTTGGGGG MANE Select	NP_000011.2:n.*44_*45insTTGGGGG
NM_001077401.2:c.*44_*45insTTGGGGG	NP_001070869.1:n.*44_*45insTTGGGGG