Canonical Allele Identifier: CA2750469876

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601533_73601534insT , CM000664.2:g.73601533_73601534insT	GRCh38
NC_000002.11:g.73828660_73828661insT , CM000664.1:g.73828660_73828661insT	GRCh37
NC_000002.10:g.73682168_73682169insT	NCBI36
NG_011690.1:g.220781_220782insT , LRG_741:g.220781_220782insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+97_11733+98insT	ENSP00000507671.1:n.11733+97_11733+98insT
ENST00000682801.1:c.11167-652_11167-651insT	ENSP00000507862.1:n.11167-652_11167-651insT
ENST00000682859.1:c.11733+97_11733+98insT	ENSP00000508222.1:n.11733+97_11733+98insT
ENST00000683791.1:c.4819+97_4819+98insT
ENST00000684460.1:c.9014+97_9014+98insT
ENST00000684548.1:c.11733+97_11733+98insT	ENSP00000507421.1:n.11733+97_11733+98insT
ENST00000684590.1:c.6180+97_6180+98insT	ENSP00000507376.1:n.6180+97_6180+98insT
ENST00000684656.1:c.9198+97_9198+98insT
ENST00000613296.6:c.12114+97_12114+98insT MANE Select	ENSP00000482968.1:n.12114+97_12114+98insT
ENST00000651057.1:c.2268+97_2268+98insT	ENSP00000498504.1:n.2268+97_2268+98insT
ENST00000651434.1:c.3470+97_3470+98insT
ENST00000651750.1:c.1261-652_1261-651insT
ENST00000652487.1:c.3285+97_3285+98insT
ENST00000464408.3:n.289+97_289+98insT
ENST00000484298.5:c.11988+97_11988+98insT	ENSP00000478155.1:n.11988+97_11988+98insT
ENST00000613296.4:c.12114+97_12114+98insT	ENSP00000482968.1:n.12114+97_12114+98insT
ENST00000620466.4:n.5917+97_5917+98insT
NM_015120.4:c.12117+97_12117+98insT , LRG_741t1:c.12117+97_12117+98insT	NP_055935.4:n.12117+97_12117+98insT
NM_001378454.1:c.12114+97_12114+98insT MANE Select	NP_001365383.1:n.12114+97_12114+98insT