Canonical Allele Identifier: CA2618855818

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912357-CCTGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912359_51912364del , CM000674.2:g.51912359_51912364del	GRCh38
NC_000012.11:g.52306143_52306148del , CM000674.1:g.52306143_52306148del	GRCh37
NC_000012.10:g.50592410_50592415del	NCBI36
NG_009549.1:g.9942_9947del , LRG_543:g.9942_9947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-74_-69del	ENSP00000446724.2:n.-74_-69del
ENST00000551576.6:c.-5-111_-5-106del	ENSP00000455848.2:n.-5-111_-5-106del
ENST00000552678.2:c.-5-111_-5-106del	ENSP00000457394.2:n.-5-111_-5-106del
ENST00000388922.9:c.-5-111_-5-106del MANE Select	ENSP00000373574.4:n.-5-111_-5-106del
ENST00000388922.8:c.-5-111_-5-106del	ENSP00000373574.4:n.-5-111_-5-106del
ENST00000547400.5:c.-74_-69del	ENSP00000446724.1:n.-74_-69del
ENST00000550683.5:c.-74_-69del	ENSP00000447884.1:n.-74_-69del
ENST00000551576.5:c.-5-111_-5-106del	ENSP00000455848.1:n.-5-111_-5-106del
NM_000020.2:c.-5-111_-5-106del , LRG_543t1:c.-5-111_-5-106del	NP_000011.2:n.-5-111_-5-106del
NM_001077401.1:c.-116_-111del	NP_001070869.1:n.-116_-111del
XM_005269235.2:c.-5-111_-5-106del	XP_005269292.1:n.-5-111_-5-106del
XM_011539008.1:c.-74_-69del	XP_011537310.1:n.-74_-69del
NM_000020.3:c.-5-111_-5-106del MANE Select	NP_000011.2:n.-5-111_-5-106del