Canonical Allele Identifier: CA2618860454

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920930-C-CTGGGGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920937_51920938insTTGGGGGG , CM000674.2:g.51920937_51920938insTTGGGGGG	GRCh38
NC_000012.11:g.52314721_52314722insTTGGGGGG , CM000674.1:g.52314721_52314722insTTGGGGGG	GRCh37
NC_000012.10:g.50600988_50600989insTTGGGGGG	NCBI36
NG_009549.1:g.18520_18521insTTGGGGGG , LRG_543:g.18520_18521insTTGGGGGG

Transcript Alleles

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