Canonical Allele Identifier: CA1261034178

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601436_73601446delinsGGTGCAGTGAC , CM000664.2:g.73601436_73601446delinsGGTGCAGTGAC	GRCh38
NC_000002.11:g.73828563_73828573delinsGGTGCAGTGAC , CM000664.1:g.73828563_73828573delinsGGTGCAGTGAC	GRCh37
NC_000002.10:g.73682071_73682081delinsGGTGCAGTGAC	NCBI36
NG_011690.1:g.220684_220694delinsGGTGCAGTGAC , LRG_741:g.220684_220694delinsGGTGCAGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733_11733+10delinsGGTGCAGTGAC
ENST00000682801.1:c.11167-749_11167-739delinsGGTGCAGTGAC	ENSP00000507862.1:n.11167-749_11167-739delinsGGTGCAGTGAC
ENST00000682859.1:c.11733_11733+10delinsGGTGCAGTGAC
ENST00000683791.1:c.4819_4819+10delinsGGTGCAGTGAC
ENST00000684460.1:c.9014_9014+10delinsGGTGCAGTGAC
ENST00000684548.1:c.11733_11733+10delinsGGTGCAGTGAC
ENST00000684590.1:c.6180_6180+10delinsGGTGCAGTGAC
ENST00000684656.1:c.9198_9198+10delinsGGTGCAGTGAC
ENST00000613296.6:c.12114_12114+10delinsGGTGCAGTGAC
ENST00000651057.1:c.2268_2268+10delinsGGTGCAGTGAC
ENST00000651434.1:c.3470_3470+10delinsGGTGCAGTGAC
ENST00000651750.1:c.1260+555_1260+565delinsGGTGCAGTGAC
ENST00000652487.1:c.3285_3285+10delinsGGTGCAGTGAC
ENST00000464408.3:n.289_289+10delinsGGTGCAGTGAC
ENST00000484298.5:c.11988_11988+10delinsGGTGCAGTGAC
ENST00000613296.4:c.12114_12114+10delinsGGTGCAGTGAC
ENST00000620466.4:n.5917_5917+10delinsGGTGCAGTGAC
NM_015120.4:c.12117_12117+10delinsGGTGCAGTGAC , LRG_741t1:c.12117_12117+10delinsGGTGCAGTGAC
NM_001378454.1:c.12114_12114+10delinsGGTGCAGTGAC