Canonical Allele Identifier: CA916081673

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 860034
• ClinVar RCV Id: RCV001066276
• dbSNP Id: rs1940838178

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916218_51916237dup , CM000674.2:g.51916218_51916237dup	GRCh38
NC_000012.11:g.52310002_52310021dup , CM000674.1:g.52310002_52310021dup	GRCh37
NC_000012.10:g.50596269_50596288dup	NCBI36
NG_009549.1:g.13801_13820dup , LRG_543:g.13801_13820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.961_976+4dup
ENST00000551576.6:c.1231_1246+4dup
ENST00000552678.2:c.1231_1246+4dup
ENST00000388922.9:c.1231_1246+4dup
ENST00000388922.8:c.1231_1246+4dup
ENST00000419526.6:c.709_724+4dup
ENST00000547632.1:n.506_521+4dup
ENST00000550683.5:c.1273_1288+4dup
ENST00000552678.1:c.236_251+4dup
NM_000020.2:c.1231_1246+4dup , LRG_543t1:c.1231_1246+4dup
NM_001077401.1:c.1231_1246+4dup
XM_005269235.2:c.1231_1246+4dup
XM_011539008.1:c.961_976+4dup
XM_024449279.1:c.442_457+4dup
NM_000020.3:c.1231_1246+4dup
NM_001077401.2:c.1231_1246+4dup