Canonical Allele Identifier: CA2659619923

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490292-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490293del , CM000664.2:g.73490293del	GRCh38
NC_000002.11:g.73717420del , CM000664.1:g.73717420del	GRCh37
NC_000002.10:g.73570928del	NCBI36
NG_011690.1:g.109541del , LRG_741:g.109541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7953del	ENSP00000507671.1:p.Ser2651ArgfsTer8
ENST00000682801.1:c.7953del	ENSP00000507862.1:p.Ser2651ArgfsTer8
ENST00000682859.1:c.7953del	ENSP00000508222.1:p.Ser2651ArgfsTer8
ENST00000683791.1:c.1345del
ENST00000684460.1:c.5405del
ENST00000684548.1:c.7953del	ENSP00000507421.1:p.Ser2651ArgfsTer8
ENST00000684590.1:c.2400del	ENSP00000507376.1:p.Ser800ArgfsTer8
ENST00000684656.1:c.5405del
ENST00000613296.6:c.8334del MANE Select	ENSP00000482968.1:p.Ser2778ArgfsTer8
ENST00000651434.1:c.896-29482del
ENST00000423048.5:c.3030+135del	ENSP00000399833.1:n.3030+135del
ENST00000484298.5:c.8208del	ENSP00000478155.1:p.Ser2736ArgfsTer8
ENST00000613296.4:c.8334del	ENSP00000482968.1:p.Ser2778ArgfsTer8
ENST00000614410.4:c.8334del	ENSP00000479094.1:p.Ser2778ArgfsTer8
ENST00000620466.4:n.2137del
NM_015120.4:c.8337del , LRG_741t1:c.8337del	NP_055935.4:p.Ser2779ArgfsTer8
NM_001378454.1:c.8334del MANE Select	NP_001365383.1:p.Ser2778ArgfsTer8