Canonical Allele Identifier: CA534124637

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 555447
• ClinVar RCV Id: RCV000671271
• dbSNP Id: rs1220975714
• gnomAD v2: 2-73799533-C-CTTGGAATGTCTTTCCAAGA
• gnomAD v3: 2-73572406-C-CTTGGAATGTCTTTCCAAGA
• gnomAD v4: 2-73572406-C-CTTGGAATGTCTTTCCAAGA
• MyVariant Identifiers: chr2:g.73799533_73799534insTTGGAATGTCTTTCCAAGA (hg19) ; chr2:g.73572406_73572407insTTGGAATGTCTTTCCAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572412_73572413insTGTCTTTCCAAGATTGGAA , CM000664.2:g.73572412_73572413insTGTCTTTCCAAGATTGGAA	GRCh38
NC_000002.11:g.73799539_73799540insTGTCTTTCCAAGATTGGAA , CM000664.1:g.73799539_73799540insTGTCTTTCCAAGATTGGAA	GRCh37
NC_000002.10:g.73653047_73653048insTGTCTTTCCAAGATTGGAA	NCBI36
NG_011690.1:g.191660_191661insTGTCTTTCCAAGATTGGAA , LRG_741:g.191660_191661insTGTCTTTCCAAGATTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10154_10155insTGTCTTTCCAAGATTGGAA	ENSP00000507671.1:p.Lys3385AsnfsTer18
ENST00000682801.1:c.10154_10155insTGTCTTTCCAAGATTGGAA	ENSP00000507862.1:p.Lys3385AsnfsTer18
ENST00000682859.1:c.10154_10155insTGTCTTTCCAAGATTGGAA	ENSP00000508222.1:p.Lys3385AsnfsTer18
ENST00000683791.1:c.3240_3241insTGTCTTTCCAAGATTGGAA
ENST00000684460.1:c.7435_7436insTGTCTTTCCAAGATTGGAA
ENST00000684548.1:c.10154_10155insTGTCTTTCCAAGATTGGAA	ENSP00000507421.1:p.Lys3385AsnfsTer18
ENST00000684590.1:c.4601_4602insTGTCTTTCCAAGATTGGAA	ENSP00000507376.1:p.Lys1534AsnfsTer18
ENST00000684656.1:c.7480_7481insTGTCTTTCCAAGATTGGAA
ENST00000613296.6:c.10535_10536insTGTCTTTCCAAGATTGGAA MANE Select	ENSP00000482968.1:p.Lys3512AsnfsTer18
ENST00000651057.1:c.689_690insTGTCTTTCCAAGATTGGAA	ENSP00000498504.1:p.Lys230AsnfsTer18
ENST00000651434.1:c.1891_1892insTGTCTTTCCAAGATTGGAA
ENST00000652487.1:c.1632_1633insTGTCTTTCCAAGATTGGAA
ENST00000423048.5:c.4026_4027insTGTCTTTCCAAGATTGGAA	ENSP00000399833.1:n.4026_4027insTGTCTTTCCAAGATTGGAA
ENST00000484298.5:c.10409_10410insTGTCTTTCCAAGATTGGAA	ENSP00000478155.1:p.Lys3470AsnfsTer18
ENST00000613296.4:c.10535_10536insTGTCTTTCCAAGATTGGAA	ENSP00000482968.1:p.Lys3512AsnfsTer18
ENST00000614410.4:c.10535_10536insTGTCTTTCCAAGATTGGAA	ENSP00000479094.1:p.Lys3512AsnfsTer18
ENST00000620466.4:n.4338_4339insTGTCTTTCCAAGATTGGAA
NM_015120.4:c.10538_10539insTGTCTTTCCAAGATTGGAA , LRG_741t1:c.10538_10539insTGTCTTTCCAAGATTGGAA	NP_055935.4:p.Lys3513AsnfsTer18
NM_001378454.1:c.10535_10536insTGTCTTTCCAAGATTGGAA MANE Select	NP_001365383.1:p.Lys3512AsnfsTer18