Canonical Allele Identifier: CA2750469822

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601477_73601478insCTC , CM000664.2:g.73601477_73601478insCTC	GRCh38
NC_000002.11:g.73828604_73828605insCTC , CM000664.1:g.73828604_73828605insCTC	GRCh37
NC_000002.10:g.73682112_73682113insCTC	NCBI36
NG_011690.1:g.220725_220726insCTC , LRG_741:g.220725_220726insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+41_11733+42insCTC	ENSP00000507671.1:n.11733+41_11733+42insCTC
ENST00000682801.1:c.11167-708_11167-707insCTC	ENSP00000507862.1:n.11167-708_11167-707insCTC
ENST00000682859.1:c.11733+41_11733+42insCTC	ENSP00000508222.1:n.11733+41_11733+42insCTC
ENST00000683791.1:c.4819+41_4819+42insCTC
ENST00000684460.1:c.9014+41_9014+42insCTC
ENST00000684548.1:c.11733+41_11733+42insCTC	ENSP00000507421.1:n.11733+41_11733+42insCTC
ENST00000684590.1:c.6180+41_6180+42insCTC	ENSP00000507376.1:n.6180+41_6180+42insCTC
ENST00000684656.1:c.9198+41_9198+42insCTC
ENST00000613296.6:c.12114+41_12114+42insCTC MANE Select	ENSP00000482968.1:n.12114+41_12114+42insCTC
ENST00000651057.1:c.2268+41_2268+42insCTC	ENSP00000498504.1:n.2268+41_2268+42insCTC
ENST00000651434.1:c.3470+41_3470+42insCTC
ENST00000651750.1:c.1260+596_1260+597insCTC
ENST00000652487.1:c.3285+41_3285+42insCTC
ENST00000464408.3:n.289+41_289+42insCTC
ENST00000484298.5:c.11988+41_11988+42insCTC	ENSP00000478155.1:n.11988+41_11988+42insCTC
ENST00000613296.4:c.12114+41_12114+42insCTC	ENSP00000482968.1:n.12114+41_12114+42insCTC
ENST00000620466.4:n.5917+41_5917+42insCTC
NM_015120.4:c.12117+41_12117+42insCTC , LRG_741t1:c.12117+41_12117+42insCTC	NP_055935.4:n.12117+41_12117+42insCTC
NM_001378454.1:c.12114+41_12114+42insCTC MANE Select	NP_001365383.1:n.12114+41_12114+42insCTC