Canonical Allele Identifier: CA1715359

Gene: ALMS1

Linked Data

• dbSNP Id: rs750996511
• ExAC: 2:73828288 A / AAT
• gnomAD v2: 2-73828288-A-AAT
• gnomAD v4: 2-73601161-A-AAT
• MyVariant Identifiers: chr2:g.73828288_73828289insAT (hg19) ; chr2:g.73601161_73601162insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601162_73601163dup , CM000664.2:g.73601162_73601163dup	GRCh38
NC_000002.11:g.73828289_73828290dup , CM000664.1:g.73828289_73828290dup	GRCh37
NC_000002.10:g.73681797_73681798dup	NCBI36
NG_011690.1:g.220410_220411dup , LRG_741:g.220410_220411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-33_11492-32dup	ENSP00000507671.1:n.11492-33_11492-32dup
ENST00000682801.1:c.11167-1023_11167-1022dup	ENSP00000507862.1:n.11167-1023_11167-1022dup
ENST00000682859.1:c.11492-33_11492-32dup	ENSP00000508222.1:n.11492-33_11492-32dup
ENST00000683791.1:c.4578-33_4578-32dup
ENST00000684460.1:c.8773-33_8773-32dup
ENST00000684548.1:c.11492-33_11492-32dup	ENSP00000507421.1:n.11492-33_11492-32dup
ENST00000684590.1:c.5939-33_5939-32dup	ENSP00000507376.1:n.5939-33_5939-32dup
ENST00000684656.1:c.8957-33_8957-32dup
ENST00000613296.6:c.11873-33_11873-32dup MANE Select	ENSP00000482968.1:n.11873-33_11873-32dup
ENST00000651057.1:c.2027-33_2027-32dup	ENSP00000498504.1:n.2027-33_2027-32dup
ENST00000651434.1:c.3229-33_3229-32dup
ENST00000651750.1:c.1260+281_1260+282dup
ENST00000652487.1:c.3044-33_3044-32dup
ENST00000464408.3:n.48-33_48-32dup
ENST00000484298.5:c.11747-33_11747-32dup	ENSP00000478155.1:n.11747-33_11747-32dup
ENST00000613296.4:c.11873-33_11873-32dup	ENSP00000482968.1:n.11873-33_11873-32dup
ENST00000620466.4:n.5676-33_5676-32dup
NM_015120.4:c.11876-33_11876-32dup , LRG_741t1:c.11876-33_11876-32dup	NP_055935.4:n.11876-33_11876-32dup
NM_001378454.1:c.11873-33_11873-32dup MANE Select	NP_001365383.1:n.11873-33_11873-32dup