Canonical Allele Identifier: CA1139662705

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 965472
• ClinVar RCV Id: RCV001239929
• dbSNP Id: rs1940814079

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915495_51915501dup , CM000674.2:g.51915495_51915501dup	GRCh38
NC_000012.11:g.52309279_52309285dup , CM000674.1:g.52309279_52309285dup	GRCh37
NC_000012.10:g.50595546_50595552dup	NCBI36
NG_009549.1:g.13078_13084dup , LRG_543:g.13078_13084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.773_778+1dup
ENST00000551576.6:c.1043_1048+1dup
ENST00000552678.2:c.1043_1048+1dup
ENST00000388922.9:c.1043_1048+1dup
ENST00000388922.8:c.1043_1048+1dup
ENST00000419526.6:c.521_526+1dup
ENST00000550683.5:c.1085_1090+1dup
ENST00000552678.1:c.48_53+1dup
NM_000020.2:c.1043_1048+1dup , LRG_543t1:c.1043_1048+1dup
NM_001077401.1:c.1043_1048+1dup
XM_005269235.2:c.1043_1048+1dup
XM_011539008.1:c.773_778+1dup
XM_024449279.1:c.254_259+1dup
NM_000020.3:c.1043_1048+1dup
NM_001077401.2:c.1043_1048+1dup