Canonical Allele Identifier: CA2659621129

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601508-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601509dup , CM000664.2:g.73601509dup	GRCh38
NC_000002.11:g.73828636dup , CM000664.1:g.73828636dup	GRCh37
NC_000002.10:g.73682144dup	NCBI36
NG_011690.1:g.220757dup , LRG_741:g.220757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+73dup	ENSP00000507671.1:n.11733+73dup
ENST00000682801.1:c.11167-676dup	ENSP00000507862.1:n.11167-676dup
ENST00000682859.1:c.11733+73dup	ENSP00000508222.1:n.11733+73dup
ENST00000683791.1:c.4819+73dup
ENST00000684460.1:c.9014+73dup
ENST00000684548.1:c.11733+73dup	ENSP00000507421.1:n.11733+73dup
ENST00000684590.1:c.6180+73dup	ENSP00000507376.1:n.6180+73dup
ENST00000684656.1:c.9198+73dup
ENST00000613296.6:c.12114+73dup MANE Select	ENSP00000482968.1:n.12114+73dup
ENST00000651057.1:c.2268+73dup	ENSP00000498504.1:n.2268+73dup
ENST00000651434.1:c.3470+73dup
ENST00000651750.1:c.1260+628dup
ENST00000652487.1:c.3285+73dup
ENST00000464408.3:n.289+73dup
ENST00000484298.5:c.11988+73dup	ENSP00000478155.1:n.11988+73dup
ENST00000613296.4:c.12114+73dup	ENSP00000482968.1:n.12114+73dup
ENST00000620466.4:n.5917+73dup
NM_015120.4:c.12117+73dup , LRG_741t1:c.12117+73dup	NP_055935.4:n.12117+73dup
NM_001378454.1:c.12114+73dup MANE Select	NP_001365383.1:n.12114+73dup