Canonical Allele Identifier: CA2618859563

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51916096-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916099dup , CM000674.2:g.51916099dup	GRCh38
NC_000012.11:g.52309883dup , CM000674.1:g.52309883dup	GRCh37
NC_000012.10:g.50596150dup	NCBI36
NG_009549.1:g.13682dup , LRG_543:g.13682dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.842dup	ENSP00000446724.2:p.Thr282HisfsTer20
ENST00000551576.6:c.1112dup	ENSP00000455848.2:p.Thr372HisfsTer20
ENST00000552678.2:c.1112dup	ENSP00000457394.2:p.Thr372HisfsTer20
ENST00000388922.9:c.1112dup MANE Select	ENSP00000373574.4:p.Thr372HisfsTer20
ENST00000388922.8:c.1112dup	ENSP00000373574.4:p.Thr372HisfsTer20
ENST00000419526.6:c.590dup	ENSP00000392492.2:p.Thr198HisfsTer20
ENST00000547632.1:n.387dup
ENST00000550683.5:c.1154dup	ENSP00000447884.1:p.Thr386HisfsTer20
ENST00000552678.1:c.117dup
NM_000020.2:c.1112dup , LRG_543t1:c.1112dup	NP_000011.2:p.Thr372HisfsTer20
NM_001077401.1:c.1112dup	NP_001070869.1:p.Thr372HisfsTer20
XM_005269235.2:c.1112dup	XP_005269292.1:p.Thr372HisfsTer20
XM_011539008.1:c.842dup	XP_011537310.1:p.Thr282HisfsTer20
XM_024449279.1:c.323dup	XP_024305047.1:p.Thr109HisfsTer20
NM_000020.3:c.1112dup MANE Select	NP_000011.2:p.Thr372HisfsTer20
NM_001077401.2:c.1112dup	NP_001070869.1:p.Thr372HisfsTer20