Canonical Allele Identifier: CA2750469811

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601465_73601466insAGA , CM000664.2:g.73601465_73601466insAGA	GRCh38
NC_000002.11:g.73828592_73828593insAGA , CM000664.1:g.73828592_73828593insAGA	GRCh37
NC_000002.10:g.73682100_73682101insAGA	NCBI36
NG_011690.1:g.220713_220714insAGA , LRG_741:g.220713_220714insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+29_11733+30insAGA	ENSP00000507671.1:n.11733+29_11733+30insAGA
ENST00000682801.1:c.11167-720_11167-719insAGA	ENSP00000507862.1:n.11167-720_11167-719insAGA
ENST00000682859.1:c.11733+29_11733+30insAGA	ENSP00000508222.1:n.11733+29_11733+30insAGA
ENST00000683791.1:c.4819+29_4819+30insAGA
ENST00000684460.1:c.9014+29_9014+30insAGA
ENST00000684548.1:c.11733+29_11733+30insAGA	ENSP00000507421.1:n.11733+29_11733+30insAGA
ENST00000684590.1:c.6180+29_6180+30insAGA	ENSP00000507376.1:n.6180+29_6180+30insAGA
ENST00000684656.1:c.9198+29_9198+30insAGA
ENST00000613296.6:c.12114+29_12114+30insAGA MANE Select	ENSP00000482968.1:n.12114+29_12114+30insAGA
ENST00000651057.1:c.2268+29_2268+30insAGA	ENSP00000498504.1:n.2268+29_2268+30insAGA
ENST00000651434.1:c.3470+29_3470+30insAGA
ENST00000651750.1:c.1260+584_1260+585insAGA
ENST00000652487.1:c.3285+29_3285+30insAGA
ENST00000464408.3:n.289+29_289+30insAGA
ENST00000484298.5:c.11988+29_11988+30insAGA	ENSP00000478155.1:n.11988+29_11988+30insAGA
ENST00000613296.4:c.12114+29_12114+30insAGA	ENSP00000482968.1:n.12114+29_12114+30insAGA
ENST00000620466.4:n.5917+29_5917+30insAGA
NM_015120.4:c.12117+29_12117+30insAGA , LRG_741t1:c.12117+29_12117+30insAGA	NP_055935.4:n.12117+29_12117+30insAGA
NM_001378454.1:c.12114+29_12114+30insAGA MANE Select	NP_001365383.1:n.12114+29_12114+30insAGA