Canonical Allele Identifier: CA2499216267

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1071886
• ClinVar RCV Id: RCV001384455 ; RCV002404899
• dbSNP Id: rs2104104189

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572435_73572438del , CM000664.2:g.73572435_73572438del	GRCh38
NC_000002.11:g.73799562_73799565del , CM000664.1:g.73799562_73799565del	GRCh37
NC_000002.10:g.73653070_73653073del	NCBI36
NG_011690.1:g.191683_191686del , LRG_741:g.191683_191686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10177_10180del	ENSP00000507671.1:p.Asp3393AsnfsTer25
ENST00000682801.1:c.10177_10180del	ENSP00000507862.1:p.Asp3393AsnfsTer25
ENST00000682859.1:c.10177_10180del	ENSP00000508222.1:p.Asp3393AsnfsTer25
ENST00000683791.1:c.3263_3266del
ENST00000684460.1:c.7458_7461del
ENST00000684548.1:c.10177_10180del	ENSP00000507421.1:p.Asp3393AsnfsTer25
ENST00000684590.1:c.4624_4627del	ENSP00000507376.1:p.Asp1542AsnfsTer25
ENST00000684656.1:c.7503_7506del
ENST00000613296.6:c.10558_10561del MANE Select	ENSP00000482968.1:p.Asp3520AsnfsTer25
ENST00000651057.1:c.712_715del	ENSP00000498504.1:p.Asp238AsnfsTer25
ENST00000651434.1:c.1914_1917del
ENST00000652487.1:c.1655_1658del
ENST00000423048.5:c.4049_4052del	ENSP00000399833.1:n.4049_4052del
ENST00000484298.5:c.10432_10435del	ENSP00000478155.1:p.Asp3478AsnfsTer25
ENST00000613296.4:c.10558_10561del	ENSP00000482968.1:p.Asp3520AsnfsTer25
ENST00000614410.4:c.10558_10561del	ENSP00000479094.1:p.Asp3520AsnfsTer25
ENST00000620466.4:n.4361_4364del
NM_015120.4:c.10561_10564del , LRG_741t1:c.10561_10564del	NP_055935.4:p.Asp3521AsnfsTer25
NM_001378454.1:c.10558_10561del MANE Select	NP_001365383.1:p.Asp3520AsnfsTer25