Canonical Allele Identifier: CA2750469829

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601490_73601491insAGA , CM000664.2:g.73601490_73601491insAGA	GRCh38
NC_000002.11:g.73828617_73828618insAGA , CM000664.1:g.73828617_73828618insAGA	GRCh37
NC_000002.10:g.73682125_73682126insAGA	NCBI36
NG_011690.1:g.220738_220739insAGA , LRG_741:g.220738_220739insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+54_11733+55insAGA	ENSP00000507671.1:n.11733+54_11733+55insAGA
ENST00000682801.1:c.11167-695_11167-694insAGA	ENSP00000507862.1:n.11167-695_11167-694insAGA
ENST00000682859.1:c.11733+54_11733+55insAGA	ENSP00000508222.1:n.11733+54_11733+55insAGA
ENST00000683791.1:c.4819+54_4819+55insAGA
ENST00000684460.1:c.9014+54_9014+55insAGA
ENST00000684548.1:c.11733+54_11733+55insAGA	ENSP00000507421.1:n.11733+54_11733+55insAGA
ENST00000684590.1:c.6180+54_6180+55insAGA	ENSP00000507376.1:n.6180+54_6180+55insAGA
ENST00000684656.1:c.9198+54_9198+55insAGA
ENST00000613296.6:c.12114+54_12114+55insAGA MANE Select	ENSP00000482968.1:n.12114+54_12114+55insAGA
ENST00000651057.1:c.2268+54_2268+55insAGA	ENSP00000498504.1:n.2268+54_2268+55insAGA
ENST00000651434.1:c.3470+54_3470+55insAGA
ENST00000651750.1:c.1260+609_1260+610insAGA
ENST00000652487.1:c.3285+54_3285+55insAGA
ENST00000464408.3:n.289+54_289+55insAGA
ENST00000484298.5:c.11988+54_11988+55insAGA	ENSP00000478155.1:n.11988+54_11988+55insAGA
ENST00000613296.4:c.12114+54_12114+55insAGA	ENSP00000482968.1:n.12114+54_12114+55insAGA
ENST00000620466.4:n.5917+54_5917+55insAGA
NM_015120.4:c.12117+54_12117+55insAGA , LRG_741t1:c.12117+54_12117+55insAGA	NP_055935.4:n.12117+54_12117+55insAGA
NM_001378454.1:c.12114+54_12114+55insAGA MANE Select	NP_001365383.1:n.12114+54_12114+55insAGA