Canonical Allele Identifier: CA2659621116

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601501-GCTGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601505_73601510del , CM000664.2:g.73601505_73601510del	GRCh38
NC_000002.11:g.73828632_73828637del , CM000664.1:g.73828632_73828637del	GRCh37
NC_000002.10:g.73682140_73682145del	NCBI36
NG_011690.1:g.220753_220758del , LRG_741:g.220753_220758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+69_11733+74del	ENSP00000507671.1:n.11733+69_11733+74del
ENST00000682801.1:c.11167-680_11167-675del	ENSP00000507862.1:n.11167-680_11167-675del
ENST00000682859.1:c.11733+69_11733+74del	ENSP00000508222.1:n.11733+69_11733+74del
ENST00000683791.1:c.4819+69_4819+74del
ENST00000684460.1:c.9014+69_9014+74del
ENST00000684548.1:c.11733+69_11733+74del	ENSP00000507421.1:n.11733+69_11733+74del
ENST00000684590.1:c.6180+69_6180+74del	ENSP00000507376.1:n.6180+69_6180+74del
ENST00000684656.1:c.9198+69_9198+74del
ENST00000613296.6:c.12114+69_12114+74del MANE Select	ENSP00000482968.1:n.12114+69_12114+74del
ENST00000651057.1:c.2268+69_2268+74del	ENSP00000498504.1:n.2268+69_2268+74del
ENST00000651434.1:c.3470+69_3470+74del
ENST00000651750.1:c.1260+624_1260+629del
ENST00000652487.1:c.3285+69_3285+74del
ENST00000464408.3:n.289+69_289+74del
ENST00000484298.5:c.11988+69_11988+74del	ENSP00000478155.1:n.11988+69_11988+74del
ENST00000613296.4:c.12114+69_12114+74del	ENSP00000482968.1:n.12114+69_12114+74del
ENST00000620466.4:n.5917+69_5917+74del
NM_015120.4:c.12117+69_12117+74del , LRG_741t1:c.12117+69_12117+74del	NP_055935.4:n.12117+69_12117+74del
NM_001378454.1:c.12114+69_12114+74del MANE Select	NP_001365383.1:n.12114+69_12114+74del