Canonical Allele Identifier: CA2750469866

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601528_73601529insACA , CM000664.2:g.73601528_73601529insACA	GRCh38
NC_000002.11:g.73828655_73828656insACA , CM000664.1:g.73828655_73828656insACA	GRCh37
NC_000002.10:g.73682163_73682164insACA	NCBI36
NG_011690.1:g.220776_220777insACA , LRG_741:g.220776_220777insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+92_11733+93insACA	ENSP00000507671.1:n.11733+92_11733+93insACA
ENST00000682801.1:c.11167-657_11167-656insACA	ENSP00000507862.1:n.11167-657_11167-656insACA
ENST00000682859.1:c.11733+92_11733+93insACA	ENSP00000508222.1:n.11733+92_11733+93insACA
ENST00000683791.1:c.4819+92_4819+93insACA
ENST00000684460.1:c.9014+92_9014+93insACA
ENST00000684548.1:c.11733+92_11733+93insACA	ENSP00000507421.1:n.11733+92_11733+93insACA
ENST00000684590.1:c.6180+92_6180+93insACA	ENSP00000507376.1:n.6180+92_6180+93insACA
ENST00000684656.1:c.9198+92_9198+93insACA
ENST00000613296.6:c.12114+92_12114+93insACA MANE Select	ENSP00000482968.1:n.12114+92_12114+93insACA
ENST00000651057.1:c.2268+92_2268+93insACA	ENSP00000498504.1:n.2268+92_2268+93insACA
ENST00000651434.1:c.3470+92_3470+93insACA
ENST00000651750.1:c.1260+647_1260+648insACA
ENST00000652487.1:c.3285+92_3285+93insACA
ENST00000464408.3:n.289+92_289+93insACA
ENST00000484298.5:c.11988+92_11988+93insACA	ENSP00000478155.1:n.11988+92_11988+93insACA
ENST00000613296.4:c.12114+92_12114+93insACA	ENSP00000482968.1:n.12114+92_12114+93insACA
ENST00000620466.4:n.5917+92_5917+93insACA
NM_015120.4:c.12117+92_12117+93insACA , LRG_741t1:c.12117+92_12117+93insACA	NP_055935.4:n.12117+92_12117+93insACA
NM_001378454.1:c.12114+92_12114+93insACA MANE Select	NP_001365383.1:n.12114+92_12114+93insACA