Canonical Allele Identifier: CA2618860713

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920931-T-TGGGGGTGTGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920936_51920937insTGTGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.51920936_51920937insTGTGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000012.11:g.52314720_52314721insTGTGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.52314720_52314721insTGTGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000012.10:g.50600987_50600988insTGTGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_009549.1:g.18519_18520insTGTGGGGGGGGGGGGGGGGGGGG , LRG_543:g.18519_18520insTGTGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	ENSP00000455848.2:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
ENST00000388922.9:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000373574.4:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
ENST00000388922.8:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	ENSP00000373574.4:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
ENST00000419526.6:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	ENSP00000392492.2:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
ENST00000550683.5:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	ENSP00000447884.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
NM_000020.2:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG , LRG_543t1:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	NP_000011.2:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
NM_001077401.1:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
XM_005269235.2:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	XP_005269292.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
XM_011539008.1:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	XP_011537310.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
XM_024449279.1:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	XP_024305047.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
NM_000020.3:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000011.2:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG
NM_001077401.2:c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG	NP_001070869.1:n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG