Canonical Allele Identifier: CA1261034277

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601476_73601479delinsGAGA , CM000664.2:g.73601476_73601479delinsGAGA	GRCh38
NC_000002.11:g.73828603_73828606delinsGAGA , CM000664.1:g.73828603_73828606delinsGAGA	GRCh37
NC_000002.10:g.73682111_73682114delinsGAGA	NCBI36
NG_011690.1:g.220724_220727delinsGAGA , LRG_741:g.220724_220727delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+40_11733+43delinsGAGA	ENSP00000507671.1:n.11733+40_11733+43delinsGAGA
ENST00000682801.1:c.11167-709_11167-706delinsGAGA	ENSP00000507862.1:n.11167-709_11167-706delinsGAGA
ENST00000682859.1:c.11733+40_11733+43delinsGAGA	ENSP00000508222.1:n.11733+40_11733+43delinsGAGA
ENST00000683791.1:c.4819+40_4819+43delinsGAGA
ENST00000684460.1:c.9014+40_9014+43delinsGAGA
ENST00000684548.1:c.11733+40_11733+43delinsGAGA	ENSP00000507421.1:n.11733+40_11733+43delinsGAGA
ENST00000684590.1:c.6180+40_6180+43delinsGAGA	ENSP00000507376.1:n.6180+40_6180+43delinsGAGA
ENST00000684656.1:c.9198+40_9198+43delinsGAGA
ENST00000613296.6:c.12114+40_12114+43delinsGAGA MANE Select	ENSP00000482968.1:n.12114+40_12114+43delinsGAGA
ENST00000651057.1:c.2268+40_2268+43delinsGAGA	ENSP00000498504.1:n.2268+40_2268+43delinsGAGA
ENST00000651434.1:c.3470+40_3470+43delinsGAGA
ENST00000651750.1:c.1260+595_1260+598delinsGAGA
ENST00000652487.1:c.3285+40_3285+43delinsGAGA
ENST00000464408.3:n.289+40_289+43delinsGAGA
ENST00000484298.5:c.11988+40_11988+43delinsGAGA	ENSP00000478155.1:n.11988+40_11988+43delinsGAGA
ENST00000613296.4:c.12114+40_12114+43delinsGAGA	ENSP00000482968.1:n.12114+40_12114+43delinsGAGA
ENST00000620466.4:n.5917+40_5917+43delinsGAGA
NM_015120.4:c.12117+40_12117+43delinsGAGA , LRG_741t1:c.12117+40_12117+43delinsGAGA	NP_055935.4:n.12117+40_12117+43delinsGAGA
NM_001378454.1:c.12114+40_12114+43delinsGAGA MANE Select	NP_001365383.1:n.12114+40_12114+43delinsGAGA