Canonical Allele Identifier: CA2750469795

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601443_73601444insAGA , CM000664.2:g.73601443_73601444insAGA	GRCh38
NC_000002.11:g.73828570_73828571insAGA , CM000664.1:g.73828570_73828571insAGA	GRCh37
NC_000002.10:g.73682078_73682079insAGA	NCBI36
NG_011690.1:g.220691_220692insAGA , LRG_741:g.220691_220692insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+7_11733+8insAGA	ENSP00000507671.1:n.11733+7_11733+8insAGA
ENST00000682801.1:c.11167-742_11167-741insAGA	ENSP00000507862.1:n.11167-742_11167-741insAGA
ENST00000682859.1:c.11733+7_11733+8insAGA	ENSP00000508222.1:n.11733+7_11733+8insAGA
ENST00000683791.1:c.4819+7_4819+8insAGA
ENST00000684460.1:c.9014+7_9014+8insAGA
ENST00000684548.1:c.11733+7_11733+8insAGA	ENSP00000507421.1:n.11733+7_11733+8insAGA
ENST00000684590.1:c.6180+7_6180+8insAGA	ENSP00000507376.1:n.6180+7_6180+8insAGA
ENST00000684656.1:c.9198+7_9198+8insAGA
ENST00000613296.6:c.12114+7_12114+8insAGA MANE Select	ENSP00000482968.1:n.12114+7_12114+8insAGA
ENST00000651057.1:c.2268+7_2268+8insAGA	ENSP00000498504.1:n.2268+7_2268+8insAGA
ENST00000651434.1:c.3470+7_3470+8insAGA
ENST00000651750.1:c.1260+562_1260+563insAGA
ENST00000652487.1:c.3285+7_3285+8insAGA
ENST00000464408.3:n.289+7_289+8insAGA
ENST00000484298.5:c.11988+7_11988+8insAGA	ENSP00000478155.1:n.11988+7_11988+8insAGA
ENST00000613296.4:c.12114+7_12114+8insAGA	ENSP00000482968.1:n.12114+7_12114+8insAGA
ENST00000620466.4:n.5917+7_5917+8insAGA
NM_015120.4:c.12117+7_12117+8insAGA , LRG_741t1:c.12117+7_12117+8insAGA	NP_055935.4:n.12117+7_12117+8insAGA
NM_001378454.1:c.12114+7_12114+8insAGA MANE Select	NP_001365383.1:n.12114+7_12114+8insAGA