Canonical Allele Identifier: CA2573135817

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1545563
• ClinVar RCV Id: RCV002168002

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601183_73601184delinsCA , CM000664.2:g.73601183_73601184delinsCA	GRCh38
NC_000002.11:g.73828310_73828311delinsCA , CM000664.1:g.73828310_73828311delinsCA	GRCh37
NC_000002.10:g.73681818_73681819delinsCA	NCBI36
NG_011690.1:g.220431_220432delinsCA , LRG_741:g.220431_220432delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-12_11492-11delinsCA	ENSP00000507671.1:n.11492-12_11492-11delinsCA
ENST00000682801.1:c.11167-1002_11167-1001delinsCA	ENSP00000507862.1:n.11167-1002_11167-1001delinsCA
ENST00000682859.1:c.11492-12_11492-11delinsCA	ENSP00000508222.1:n.11492-12_11492-11delinsCA
ENST00000683791.1:c.4578-12_4578-11delinsCA
ENST00000684460.1:c.8773-12_8773-11delinsCA
ENST00000684548.1:c.11492-12_11492-11delinsCA	ENSP00000507421.1:n.11492-12_11492-11delinsCA
ENST00000684590.1:c.5939-12_5939-11delinsCA	ENSP00000507376.1:n.5939-12_5939-11delinsCA
ENST00000684656.1:c.8957-12_8957-11delinsCA
ENST00000613296.6:c.11873-12_11873-11delinsCA MANE Select	ENSP00000482968.1:n.11873-12_11873-11delinsCA
ENST00000651057.1:c.2027-12_2027-11delinsCA	ENSP00000498504.1:n.2027-12_2027-11delinsCA
ENST00000651434.1:c.3229-12_3229-11delinsCA
ENST00000651750.1:c.1260+302_1260+303delinsCA
ENST00000652487.1:c.3044-12_3044-11delinsCA
ENST00000464408.3:n.48-12_48-11delinsCA
ENST00000484298.5:c.11747-12_11747-11delinsCA	ENSP00000478155.1:n.11747-12_11747-11delinsCA
ENST00000613296.4:c.11873-12_11873-11delinsCA	ENSP00000482968.1:n.11873-12_11873-11delinsCA
ENST00000620466.4:n.5676-12_5676-11delinsCA
NM_015120.4:c.11876-12_11876-11delinsCA , LRG_741t1:c.11876-12_11876-11delinsCA	NP_055935.4:n.11876-12_11876-11delinsCA
NM_001378454.1:c.11873-12_11873-11delinsCA MANE Select	NP_001365383.1:n.11873-12_11873-11delinsCA