Canonical Allele Identifier: CA2750469878

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601535_73601536del , CM000664.2:g.73601535_73601536del	GRCh38
NC_000002.11:g.73828662_73828663del , CM000664.1:g.73828662_73828663del	GRCh37
NC_000002.10:g.73682170_73682171del	NCBI36
NG_011690.1:g.220783_220784del , LRG_741:g.220783_220784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+99_11733+100del	ENSP00000507671.1:n.11733+99_11733+100del
ENST00000682801.1:c.11167-650_11167-649del	ENSP00000507862.1:n.11167-650_11167-649del
ENST00000682859.1:c.11733+99_11733+100del	ENSP00000508222.1:n.11733+99_11733+100del
ENST00000683791.1:c.4819+99_4819+100del
ENST00000684460.1:c.9014+99_9014+100del
ENST00000684548.1:c.11733+99_11733+100del	ENSP00000507421.1:n.11733+99_11733+100del
ENST00000684590.1:c.6180+99_6180+100del	ENSP00000507376.1:n.6180+99_6180+100del
ENST00000684656.1:c.9198+99_9198+100del
ENST00000613296.6:c.12114+99_12114+100del MANE Select	ENSP00000482968.1:n.12114+99_12114+100del
ENST00000651057.1:c.2268+99_2268+100del	ENSP00000498504.1:n.2268+99_2268+100del
ENST00000651434.1:c.3470+99_3470+100del
ENST00000651750.1:c.1261-650_1261-649del
ENST00000652487.1:c.3285+99_3285+100del
ENST00000464408.3:n.289+99_289+100del
ENST00000484298.5:c.11988+99_11988+100del	ENSP00000478155.1:n.11988+99_11988+100del
ENST00000613296.4:c.12114+99_12114+100del	ENSP00000482968.1:n.12114+99_12114+100del
ENST00000620466.4:n.5917+99_5917+100del
NM_015120.4:c.12117+99_12117+100del , LRG_741t1:c.12117+99_12117+100del	NP_055935.4:n.12117+99_12117+100del
NM_001378454.1:c.12114+99_12114+100del MANE Select	NP_001365383.1:n.12114+99_12114+100del