Canonical Allele Identifier: CA2750469824

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601479_73601480insT , CM000664.2:g.73601479_73601480insT	GRCh38
NC_000002.11:g.73828606_73828607insT , CM000664.1:g.73828606_73828607insT	GRCh37
NC_000002.10:g.73682114_73682115insT	NCBI36
NG_011690.1:g.220727_220728insT , LRG_741:g.220727_220728insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+43_11733+44insT	ENSP00000507671.1:n.11733+43_11733+44insT
ENST00000682801.1:c.11167-706_11167-705insT	ENSP00000507862.1:n.11167-706_11167-705insT
ENST00000682859.1:c.11733+43_11733+44insT	ENSP00000508222.1:n.11733+43_11733+44insT
ENST00000683791.1:c.4819+43_4819+44insT
ENST00000684460.1:c.9014+43_9014+44insT
ENST00000684548.1:c.11733+43_11733+44insT	ENSP00000507421.1:n.11733+43_11733+44insT
ENST00000684590.1:c.6180+43_6180+44insT	ENSP00000507376.1:n.6180+43_6180+44insT
ENST00000684656.1:c.9198+43_9198+44insT
ENST00000613296.6:c.12114+43_12114+44insT MANE Select	ENSP00000482968.1:n.12114+43_12114+44insT
ENST00000651057.1:c.2268+43_2268+44insT	ENSP00000498504.1:n.2268+43_2268+44insT
ENST00000651434.1:c.3470+43_3470+44insT
ENST00000651750.1:c.1260+598_1260+599insT
ENST00000652487.1:c.3285+43_3285+44insT
ENST00000464408.3:n.289+43_289+44insT
ENST00000484298.5:c.11988+43_11988+44insT	ENSP00000478155.1:n.11988+43_11988+44insT
ENST00000613296.4:c.12114+43_12114+44insT	ENSP00000482968.1:n.12114+43_12114+44insT
ENST00000620466.4:n.5917+43_5917+44insT
NM_015120.4:c.12117+43_12117+44insT , LRG_741t1:c.12117+43_12117+44insT	NP_055935.4:n.12117+43_12117+44insT
NM_001378454.1:c.12114+43_12114+44insT MANE Select	NP_001365383.1:n.12114+43_12114+44insT