Canonical Allele Identifier: CA534124624

Gene: ALMS1

Linked Data

• dbSNP Id: rs1178045307
• gnomAD v2: 2-73799483-TC-T
• gnomAD v4: 2-73572356-TC-T
• MyVariant Identifiers: chr2:g.73799484del (hg19) ; chr2:g.73572357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572357del , CM000664.2:g.73572357del	GRCh38
NC_000002.11:g.73799484del , CM000664.1:g.73799484del	GRCh37
NC_000002.10:g.73652992del	NCBI36
NG_011690.1:g.191605del , LRG_741:g.191605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10099del	ENSP00000507671.1:p.Gln3367LysfsTer14
ENST00000682801.1:c.10099del	ENSP00000507862.1:p.Gln3367LysfsTer14
ENST00000682859.1:c.10099del	ENSP00000508222.1:p.Gln3367LysfsTer14
ENST00000683791.1:c.3185del
ENST00000684460.1:c.7380del
ENST00000684548.1:c.10099del	ENSP00000507421.1:p.Gln3367LysfsTer14
ENST00000684590.1:c.4546del	ENSP00000507376.1:p.Gln1516LysfsTer14
ENST00000684656.1:c.7425del
ENST00000613296.6:c.10480del MANE Select	ENSP00000482968.1:p.Gln3494LysfsTer14
ENST00000651057.1:c.634del	ENSP00000498504.1:p.Gln212LysfsTer14
ENST00000651434.1:c.1836del
ENST00000652487.1:c.1577del
ENST00000423048.5:c.3971del	ENSP00000399833.1:n.3971del
ENST00000484298.5:c.10354del	ENSP00000478155.1:p.Gln3452LysfsTer14
ENST00000613296.4:c.10480del	ENSP00000482968.1:p.Gln3494LysfsTer14
ENST00000614410.4:c.10480del	ENSP00000479094.1:p.Gln3494LysfsTer14
ENST00000620466.4:n.4283del
NM_015120.4:c.10483del , LRG_741t1:c.10483del	NP_055935.4:p.Gln3495LysfsTer14
NM_001378454.1:c.10480del MANE Select	NP_001365383.1:p.Gln3494LysfsTer14