Canonical Allele Identifier: CA2750469801

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601446_73601447insACG , CM000664.2:g.73601446_73601447insACG	GRCh38
NC_000002.11:g.73828573_73828574insACG , CM000664.1:g.73828573_73828574insACG	GRCh37
NC_000002.10:g.73682081_73682082insACG	NCBI36
NG_011690.1:g.220694_220695insACG , LRG_741:g.220694_220695insACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+10_11733+11insACG	ENSP00000507671.1:n.11733+10_11733+11insACG
ENST00000682801.1:c.11167-739_11167-738insACG	ENSP00000507862.1:n.11167-739_11167-738insACG
ENST00000682859.1:c.11733+10_11733+11insACG	ENSP00000508222.1:n.11733+10_11733+11insACG
ENST00000683791.1:c.4819+10_4819+11insACG
ENST00000684460.1:c.9014+10_9014+11insACG
ENST00000684548.1:c.11733+10_11733+11insACG	ENSP00000507421.1:n.11733+10_11733+11insACG
ENST00000684590.1:c.6180+10_6180+11insACG	ENSP00000507376.1:n.6180+10_6180+11insACG
ENST00000684656.1:c.9198+10_9198+11insACG
ENST00000613296.6:c.12114+10_12114+11insACG MANE Select	ENSP00000482968.1:n.12114+10_12114+11insACG
ENST00000651057.1:c.2268+10_2268+11insACG	ENSP00000498504.1:n.2268+10_2268+11insACG
ENST00000651434.1:c.3470+10_3470+11insACG
ENST00000651750.1:c.1260+565_1260+566insACG
ENST00000652487.1:c.3285+10_3285+11insACG
ENST00000464408.3:n.289+10_289+11insACG
ENST00000484298.5:c.11988+10_11988+11insACG	ENSP00000478155.1:n.11988+10_11988+11insACG
ENST00000613296.4:c.12114+10_12114+11insACG	ENSP00000482968.1:n.12114+10_12114+11insACG
ENST00000620466.4:n.5917+10_5917+11insACG
NM_015120.4:c.12117+10_12117+11insACG , LRG_741t1:c.12117+10_12117+11insACG	NP_055935.4:n.12117+10_12117+11insACG
NM_001378454.1:c.12114+10_12114+11insACG MANE Select	NP_001365383.1:n.12114+10_12114+11insACG