Canonical Allele Identifier: CA2596578563

Gene: ACVRL1

Linked Data

• gnomAD v3: 12-51920939-T-TGGGGGG
• gnomAD v4: 12-51920939-T-TGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920940_51920945dup , CM000674.2:g.51920940_51920945dup	GRCh38
NC_000012.11:g.52314724_52314729dup , CM000674.1:g.52314724_52314729dup	GRCh37
NC_000012.10:g.50600991_50600996dup	NCBI36
NG_009549.1:g.18523_18528dup , LRG_543:g.18523_18528dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*47_*52dup	ENSP00000455848.2:n.*47_*52dup
ENST00000388922.9:c.*47_*52dup MANE Select	ENSP00000373574.4:n.*47_*52dup
ENST00000388922.8:c.*47_*52dup	ENSP00000373574.4:n.*47_*52dup
ENST00000419526.6:c.*47_*52dup	ENSP00000392492.2:n.*47_*52dup
ENST00000550683.5:c.*47_*52dup	ENSP00000447884.1:n.*47_*52dup
NM_000020.2:c.*47_*52dup , LRG_543t1:c.*47_*52dup	NP_000011.2:n.*47_*52dup
NM_001077401.1:c.*47_*52dup	NP_001070869.1:n.*47_*52dup
XM_005269235.2:c.*47_*52dup	XP_005269292.1:n.*47_*52dup
XM_011539008.1:c.*47_*52dup	XP_011537310.1:n.*47_*52dup
XM_024449279.1:c.*47_*52dup	XP_024305047.1:n.*47_*52dup
NM_000020.3:c.*47_*52dup MANE Select	NP_000011.2:n.*47_*52dup
NM_001077401.2:c.*47_*52dup	NP_001070869.1:n.*47_*52dup