Canonical Allele Identifier: CA2659617249

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572878-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572879del , CM000664.2:g.73572879del	GRCh38
NC_000002.11:g.73800006del , CM000664.1:g.73800006del	GRCh37
NC_000002.10:g.73653514del	NCBI36
NG_011690.1:g.192127del , LRG_741:g.192127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10621del	ENSP00000507671.1:p.Gln3541SerfsTer15
ENST00000682801.1:c.10621del	ENSP00000507862.1:p.Gln3541SerfsTer15
ENST00000682859.1:c.10621del	ENSP00000508222.1:p.Gln3541SerfsTer15
ENST00000683791.1:c.3707del
ENST00000684460.1:c.7902del
ENST00000684548.1:c.10621del	ENSP00000507421.1:p.Gln3541SerfsTer15
ENST00000684590.1:c.5068del	ENSP00000507376.1:p.Gln1690SerfsTer15
ENST00000684656.1:c.7947del
ENST00000613296.6:c.11002del MANE Select	ENSP00000482968.1:p.Gln3668SerfsTer15
ENST00000651057.1:c.1156del	ENSP00000498504.1:p.Gln386SerfsTer15
ENST00000651434.1:c.2358del
ENST00000651750.1:c.390del
ENST00000652487.1:c.2099del
ENST00000423048.5:c.4493del	ENSP00000399833.1:n.4493del
ENST00000484298.5:c.10876del	ENSP00000478155.1:p.Gln3626SerfsTer15
ENST00000613296.4:c.11002del	ENSP00000482968.1:p.Gln3668SerfsTer15
ENST00000614410.4:c.11002del	ENSP00000479094.1:p.Gln3668SerfsTer15
ENST00000620466.4:n.4805del
NM_015120.4:c.11005del , LRG_741t1:c.11005del	NP_055935.4:p.Gln3669SerfsTer15
NM_001378454.1:c.11002del MANE Select	NP_001365383.1:p.Gln3668SerfsTer15