Canonical Allele Identifier: CA1261034224

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601454_73601455delinsTA , CM000664.2:g.73601454_73601455delinsTA	GRCh38
NC_000002.11:g.73828581_73828582delinsTA , CM000664.1:g.73828581_73828582delinsTA	GRCh37
NC_000002.10:g.73682089_73682090delinsTA	NCBI36
NG_011690.1:g.220702_220703delinsTA , LRG_741:g.220702_220703delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+18_11733+19delinsTA	ENSP00000507671.1:n.11733+18_11733+19delinsTA
ENST00000682801.1:c.11167-731_11167-730delinsTA	ENSP00000507862.1:n.11167-731_11167-730delinsTA
ENST00000682859.1:c.11733+18_11733+19delinsTA	ENSP00000508222.1:n.11733+18_11733+19delinsTA
ENST00000683791.1:c.4819+18_4819+19delinsTA
ENST00000684460.1:c.9014+18_9014+19delinsTA
ENST00000684548.1:c.11733+18_11733+19delinsTA	ENSP00000507421.1:n.11733+18_11733+19delinsTA
ENST00000684590.1:c.6180+18_6180+19delinsTA	ENSP00000507376.1:n.6180+18_6180+19delinsTA
ENST00000684656.1:c.9198+18_9198+19delinsTA
ENST00000613296.6:c.12114+18_12114+19delinsTA MANE Select	ENSP00000482968.1:n.12114+18_12114+19delinsTA
ENST00000651057.1:c.2268+18_2268+19delinsTA	ENSP00000498504.1:n.2268+18_2268+19delinsTA
ENST00000651434.1:c.3470+18_3470+19delinsTA
ENST00000651750.1:c.1260+573_1260+574delinsTA
ENST00000652487.1:c.3285+18_3285+19delinsTA
ENST00000464408.3:n.289+18_289+19delinsTA
ENST00000484298.5:c.11988+18_11988+19delinsTA	ENSP00000478155.1:n.11988+18_11988+19delinsTA
ENST00000613296.4:c.12114+18_12114+19delinsTA	ENSP00000482968.1:n.12114+18_12114+19delinsTA
ENST00000620466.4:n.5917+18_5917+19delinsTA
NM_015120.4:c.12117+18_12117+19delinsTA , LRG_741t1:c.12117+18_12117+19delinsTA	NP_055935.4:n.12117+18_12117+19delinsTA
NM_001378454.1:c.12114+18_12114+19delinsTA MANE Select	NP_001365383.1:n.12114+18_12114+19delinsTA