Canonical Allele Identifier: CA2659617096

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572481-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572483del , CM000664.2:g.73572483del	GRCh38
NC_000002.11:g.73799610del , CM000664.1:g.73799610del	GRCh37
NC_000002.10:g.73653118del	NCBI36
NG_011690.1:g.191731del , LRG_741:g.191731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10225del	ENSP00000507671.1:p.Asp3409ThrfsTer10
ENST00000682801.1:c.10225del	ENSP00000507862.1:p.Asp3409ThrfsTer10
ENST00000682859.1:c.10225del	ENSP00000508222.1:p.Asp3409ThrfsTer10
ENST00000683791.1:c.3311del
ENST00000684460.1:c.7506del
ENST00000684548.1:c.10225del	ENSP00000507421.1:p.Asp3409ThrfsTer10
ENST00000684590.1:c.4672del	ENSP00000507376.1:p.Asp1558ThrfsTer10
ENST00000684656.1:c.7551del
ENST00000613296.6:c.10606del MANE Select	ENSP00000482968.1:p.Asp3536ThrfsTer10
ENST00000651057.1:c.760del	ENSP00000498504.1:p.Asp254ThrfsTer10
ENST00000651434.1:c.1962del
ENST00000652487.1:c.1703del
ENST00000423048.5:c.4097del	ENSP00000399833.1:n.4097del
ENST00000484298.5:c.10480del	ENSP00000478155.1:p.Asp3494ThrfsTer10
ENST00000613296.4:c.10606del	ENSP00000482968.1:p.Asp3536ThrfsTer10
ENST00000614410.4:c.10606del	ENSP00000479094.1:p.Asp3536ThrfsTer10
ENST00000620466.4:n.4409del
NM_015120.4:c.10609del , LRG_741t1:c.10609del	NP_055935.4:p.Asp3537ThrfsTer10
NM_001378454.1:c.10606del MANE Select	NP_001365383.1:p.Asp3536ThrfsTer10