Canonical Allele Identifier: CA2750469880

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601536_73601537insACA , CM000664.2:g.73601536_73601537insACA	GRCh38
NC_000002.11:g.73828663_73828664insACA , CM000664.1:g.73828663_73828664insACA	GRCh37
NC_000002.10:g.73682171_73682172insACA	NCBI36
NG_011690.1:g.220784_220785insACA , LRG_741:g.220784_220785insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+100_11733+101insACA	ENSP00000507671.1:n.11733+100_11733+101insACA
ENST00000682801.1:c.11167-649_11167-648insACA	ENSP00000507862.1:n.11167-649_11167-648insACA
ENST00000682859.1:c.11733+100_11733+101insACA	ENSP00000508222.1:n.11733+100_11733+101insACA
ENST00000683791.1:c.4819+100_4819+101insACA
ENST00000684460.1:c.9014+100_9014+101insACA
ENST00000684548.1:c.11733+100_11733+101insACA	ENSP00000507421.1:n.11733+100_11733+101insACA
ENST00000684590.1:c.6180+100_6180+101insACA	ENSP00000507376.1:n.6180+100_6180+101insACA
ENST00000684656.1:c.9198+100_9198+101insACA
ENST00000613296.6:c.12114+100_12114+101insACA MANE Select	ENSP00000482968.1:n.12114+100_12114+101insACA
ENST00000651057.1:c.2268+100_2268+101insACA	ENSP00000498504.1:n.2268+100_2268+101insACA
ENST00000651434.1:c.3470+100_3470+101insACA
ENST00000651750.1:c.1261-649_1261-648insACA
ENST00000652487.1:c.3285+100_3285+101insACA
ENST00000464408.3:n.289+100_289+101insACA
ENST00000484298.5:c.11988+100_11988+101insACA	ENSP00000478155.1:n.11988+100_11988+101insACA
ENST00000613296.4:c.12114+100_12114+101insACA	ENSP00000482968.1:n.12114+100_12114+101insACA
ENST00000620466.4:n.5917+100_5917+101insACA
NM_015120.4:c.12117+100_12117+101insACA , LRG_741t1:c.12117+100_12117+101insACA	NP_055935.4:n.12117+100_12117+101insACA
NM_001378454.1:c.12114+100_12114+101insACA MANE Select	NP_001365383.1:n.12114+100_12114+101insACA