Canonical Allele Identifier: CA2659621092

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601314-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601317del , CM000664.2:g.73601317del	GRCh38
NC_000002.11:g.73828444del , CM000664.1:g.73828444del	GRCh37
NC_000002.10:g.73681952del	NCBI36
NG_011690.1:g.220565del , LRG_741:g.220565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11614del	ENSP00000507671.1:p.Glu3872SerfsTer?
ENST00000682801.1:c.11167-868del	ENSP00000507862.1:n.11167-868del
ENST00000682859.1:c.11614del	ENSP00000508222.1:p.Glu3872SerfsTer?
ENST00000683791.1:c.4700del
ENST00000684460.1:c.8895del
ENST00000684548.1:c.11614del	ENSP00000507421.1:p.Glu3872SerfsTer?
ENST00000684590.1:c.6061del	ENSP00000507376.1:p.Glu2021SerfsTer?
ENST00000684656.1:c.9079del
ENST00000613296.6:c.11995del MANE Select	ENSP00000482968.1:p.Glu3999SerfsTer?
ENST00000651057.1:c.2149del	ENSP00000498504.1:p.Glu717SerfsTer?
ENST00000651434.1:c.3351del
ENST00000651750.1:c.1260+436del
ENST00000652487.1:c.3166del
ENST00000464408.3:n.170del
ENST00000484298.5:c.11869del	ENSP00000478155.1:p.Glu3957SerfsTer?
ENST00000613296.4:c.11995del	ENSP00000482968.1:p.Glu3999SerfsTer?
ENST00000620466.4:n.5798del
NM_015120.4:c.11998del , LRG_741t1:c.11998del	NP_055935.4:p.Glu4000SerfsTer?
NM_001378454.1:c.11995del MANE Select	NP_001365383.1:p.Glu3999SerfsTer?