Canonical Allele Identifier: CA16043812
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374607
ClinVar RCV Id: RCV000415834
dbSNP Id: rs1057519168

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920787_51920794dup , CM000674.2:g.51920787_51920794dup GRCh38
NC_000012.11:g.52314571_52314578dup , CM000674.1:g.52314571_52314578dup GRCh37
NC_000012.10:g.50600838_50600845dup NCBI36
NG_009549.1:g.18370_18377dup , LRG_543:g.18370_18377dup

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1136_1143dup ENSP00000446724.2:p.Trp382GlyfsTer?
ENST00000551576.6:c.1406_1413dup ENSP00000455848.2:p.Trp472GlyfsTer?
ENST00000388922.9:c.1406_1413dup MANE Select ENSP00000373574.4:p.Trp472GlyfsTer?
ENST00000388922.8:c.1406_1413dup ENSP00000373574.4:p.Trp472GlyfsTer?
ENST00000419526.6:c.884_891dup ENSP00000392492.2:p.Trp298GlyfsTer?
ENST00000550683.5:c.1448_1455dup ENSP00000447884.1:p.Trp486GlyfsTer?
NM_000020.2:c.1406_1413dup , LRG_543t1:c.1406_1413dup NP_000011.2:p.Trp472GlyfsTer?
NM_001077401.1:c.1406_1413dup NP_001070869.1:p.Trp472GlyfsTer?
XM_005269235.2:c.1406_1413dup XP_005269292.1:p.Trp472GlyfsTer?
XM_011539008.1:c.1136_1143dup XP_011537310.1:p.Trp382GlyfsTer?
XM_024449279.1:c.617_624dup XP_024305047.1:p.Trp209GlyfsTer?
NM_000020.3:c.1406_1413dup MANE Select NP_000011.2:p.Trp472GlyfsTer?
NM_001077401.2:c.1406_1413dup NP_001070869.1:p.Trp472GlyfsTer?