Canonical Allele Identifier: CA2750469814

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601468_73601469insACA , CM000664.2:g.73601468_73601469insACA	GRCh38
NC_000002.11:g.73828595_73828596insACA , CM000664.1:g.73828595_73828596insACA	GRCh37
NC_000002.10:g.73682103_73682104insACA	NCBI36
NG_011690.1:g.220716_220717insACA , LRG_741:g.220716_220717insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+32_11733+33insACA	ENSP00000507671.1:n.11733+32_11733+33insACA
ENST00000682801.1:c.11167-717_11167-716insACA	ENSP00000507862.1:n.11167-717_11167-716insACA
ENST00000682859.1:c.11733+32_11733+33insACA	ENSP00000508222.1:n.11733+32_11733+33insACA
ENST00000683791.1:c.4819+32_4819+33insACA
ENST00000684460.1:c.9014+32_9014+33insACA
ENST00000684548.1:c.11733+32_11733+33insACA	ENSP00000507421.1:n.11733+32_11733+33insACA
ENST00000684590.1:c.6180+32_6180+33insACA	ENSP00000507376.1:n.6180+32_6180+33insACA
ENST00000684656.1:c.9198+32_9198+33insACA
ENST00000613296.6:c.12114+32_12114+33insACA MANE Select	ENSP00000482968.1:n.12114+32_12114+33insACA
ENST00000651057.1:c.2268+32_2268+33insACA	ENSP00000498504.1:n.2268+32_2268+33insACA
ENST00000651434.1:c.3470+32_3470+33insACA
ENST00000651750.1:c.1260+587_1260+588insACA
ENST00000652487.1:c.3285+32_3285+33insACA
ENST00000464408.3:n.289+32_289+33insACA
ENST00000484298.5:c.11988+32_11988+33insACA	ENSP00000478155.1:n.11988+32_11988+33insACA
ENST00000613296.4:c.12114+32_12114+33insACA	ENSP00000482968.1:n.12114+32_12114+33insACA
ENST00000620466.4:n.5917+32_5917+33insACA
NM_015120.4:c.12117+32_12117+33insACA , LRG_741t1:c.12117+32_12117+33insACA	NP_055935.4:n.12117+32_12117+33insACA
NM_001378454.1:c.12114+32_12114+33insACA MANE Select	NP_001365383.1:n.12114+32_12114+33insACA