Canonical Allele Identifier: CA2580086498
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798299
ClinVar RCV Id: RCV002442113

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916110_51916148dup , CM000674.2:g.51916110_51916148dup GRCh38
NC_000012.11:g.52309894_52309932dup , CM000674.1:g.52309894_52309932dup GRCh37
NC_000012.10:g.50596161_50596199dup NCBI36
NG_009549.1:g.13693_13731dup , LRG_543:g.13693_13731dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.853_891dup ENSP00000446724.2:p.Thr297_Asp298insTyrMetAlaProGluValLeuAspG...
ENST00000551576.6:c.1123_1161dup ENSP00000455848.2:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspG...
ENST00000552678.2:c.1123_1161dup ENSP00000457394.2:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspG...
ENST00000388922.9:c.1123_1161dup MANE Select ENSP00000373574.4:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspG...
ENST00000388922.8:c.1123_1161dup ENSP00000373574.4:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspG...
ENST00000419526.6:c.601_639dup ENSP00000392492.2:p.Thr213_Asp214insTyrMetAlaProGluValLeuAspG...
ENST00000547632.1:n.398_436dup
ENST00000550683.5:c.1165_1203dup ENSP00000447884.1:p.Thr401_Asp402insTyrMetAlaProGluValLeuAspG...
ENST00000552678.1:c.128_166dup
NM_000020.2:c.1123_1161dup , LRG_543t1:c.1123_1161dup NP_000011.2:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnI...
NM_001077401.1:c.1123_1161dup NP_001070869.1:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluG...
XM_005269235.2:c.1123_1161dup XP_005269292.1:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluG...
XM_011539008.1:c.853_891dup XP_011537310.1:p.Thr297_Asp298insTyrMetAlaProGluValLeuAspGluG...
XM_024449279.1:c.334_372dup XP_024305047.1:p.Thr124_Asp125insTyrMetAlaProGluValLeuAspGluG...
NM_000020.3:c.1123_1161dup MANE Select NP_000011.2:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnI...
NM_001077401.2:c.1123_1161dup NP_001070869.1:p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluG...