Canonical Allele Identifier: CA2750469804

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601453_73601455del , CM000664.2:g.73601453_73601455del	GRCh38
NC_000002.11:g.73828580_73828582del , CM000664.1:g.73828580_73828582del	GRCh37
NC_000002.10:g.73682088_73682090del	NCBI36
NG_011690.1:g.220701_220703del , LRG_741:g.220701_220703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+17_11733+19del	ENSP00000507671.1:n.11733+17_11733+19del
ENST00000682801.1:c.11167-732_11167-730del	ENSP00000507862.1:n.11167-732_11167-730del
ENST00000682859.1:c.11733+17_11733+19del	ENSP00000508222.1:n.11733+17_11733+19del
ENST00000683791.1:c.4819+17_4819+19del
ENST00000684460.1:c.9014+17_9014+19del
ENST00000684548.1:c.11733+17_11733+19del	ENSP00000507421.1:n.11733+17_11733+19del
ENST00000684590.1:c.6180+17_6180+19del	ENSP00000507376.1:n.6180+17_6180+19del
ENST00000684656.1:c.9198+17_9198+19del
ENST00000613296.6:c.12114+17_12114+19del MANE Select	ENSP00000482968.1:n.12114+17_12114+19del
ENST00000651057.1:c.2268+17_2268+19del	ENSP00000498504.1:n.2268+17_2268+19del
ENST00000651434.1:c.3470+17_3470+19del
ENST00000651750.1:c.1260+572_1260+574del
ENST00000652487.1:c.3285+17_3285+19del
ENST00000464408.3:n.289+17_289+19del
ENST00000484298.5:c.11988+17_11988+19del	ENSP00000478155.1:n.11988+17_11988+19del
ENST00000613296.4:c.12114+17_12114+19del	ENSP00000482968.1:n.12114+17_12114+19del
ENST00000620466.4:n.5917+17_5917+19del
NM_015120.4:c.12117+17_12117+19del , LRG_741t1:c.12117+17_12117+19del	NP_055935.4:n.12117+17_12117+19del
NM_001378454.1:c.12114+17_12114+19del MANE Select	NP_001365383.1:n.12114+17_12114+19del