Canonical Allele Identifier: CA2750469835

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601495_73601496insAGG , CM000664.2:g.73601495_73601496insAGG	GRCh38
NC_000002.11:g.73828622_73828623insAGG , CM000664.1:g.73828622_73828623insAGG	GRCh37
NC_000002.10:g.73682130_73682131insAGG	NCBI36
NG_011690.1:g.220743_220744insAGG , LRG_741:g.220743_220744insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+59_11733+60insAGG	ENSP00000507671.1:n.11733+59_11733+60insAGG
ENST00000682801.1:c.11167-690_11167-689insAGG	ENSP00000507862.1:n.11167-690_11167-689insAGG
ENST00000682859.1:c.11733+59_11733+60insAGG	ENSP00000508222.1:n.11733+59_11733+60insAGG
ENST00000683791.1:c.4819+59_4819+60insAGG
ENST00000684460.1:c.9014+59_9014+60insAGG
ENST00000684548.1:c.11733+59_11733+60insAGG	ENSP00000507421.1:n.11733+59_11733+60insAGG
ENST00000684590.1:c.6180+59_6180+60insAGG	ENSP00000507376.1:n.6180+59_6180+60insAGG
ENST00000684656.1:c.9198+59_9198+60insAGG
ENST00000613296.6:c.12114+59_12114+60insAGG MANE Select	ENSP00000482968.1:n.12114+59_12114+60insAGG
ENST00000651057.1:c.2268+59_2268+60insAGG	ENSP00000498504.1:n.2268+59_2268+60insAGG
ENST00000651434.1:c.3470+59_3470+60insAGG
ENST00000651750.1:c.1260+614_1260+615insAGG
ENST00000652487.1:c.3285+59_3285+60insAGG
ENST00000464408.3:n.289+59_289+60insAGG
ENST00000484298.5:c.11988+59_11988+60insAGG	ENSP00000478155.1:n.11988+59_11988+60insAGG
ENST00000613296.4:c.12114+59_12114+60insAGG	ENSP00000482968.1:n.12114+59_12114+60insAGG
ENST00000620466.4:n.5917+59_5917+60insAGG
NM_015120.4:c.12117+59_12117+60insAGG , LRG_741t1:c.12117+59_12117+60insAGG	NP_055935.4:n.12117+59_12117+60insAGG
NM_001378454.1:c.12114+59_12114+60insAGG MANE Select	NP_001365383.1:n.12114+59_12114+60insAGG