Canonical Allele Identifier: CA533676034

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1085756
• ClinVar RCV Id: RCV001403262
• dbSNP Id: rs1558711954
• gnomAD v2: 2-73828565-T-TGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAA
• gnomAD v3: 2-73601438-T-TGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAA
• gnomAD v4: 2-73601438-T-TGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAA
• MyVariant Identifiers: chr2:g.73828565_73828566insGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAA (hg19) ; chr2:g.73601438_73601439insGCAGTGACGTTGACTTAACTTTAATGCTACGTGTAGGGAGAAGAAGGGCAAGGCGCAGAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601441_73601502dup , CM000664.2:g.73601441_73601502dup	GRCh38
NC_000002.11:g.73828568_73828629dup , CM000664.1:g.73828568_73828629dup	GRCh37
NC_000002.10:g.73682076_73682137dup	NCBI36
NG_011690.1:g.220689_220750dup , LRG_741:g.220689_220750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11733+5_11733+66dup	ENSP00000507671.1:n.11733+5_11733+66dup
ENST00000682801.1:c.11167-744_11167-683dup	ENSP00000507862.1:n.11167-744_11167-683dup
ENST00000682859.1:c.11733+5_11733+66dup	ENSP00000508222.1:n.11733+5_11733+66dup
ENST00000683791.1:c.4819+5_4819+66dup
ENST00000684460.1:c.9014+5_9014+66dup
ENST00000684548.1:c.11733+5_11733+66dup	ENSP00000507421.1:n.11733+5_11733+66dup
ENST00000684590.1:c.6180+5_6180+66dup	ENSP00000507376.1:n.6180+5_6180+66dup
ENST00000684656.1:c.9198+5_9198+66dup
ENST00000613296.6:c.12114+5_12114+66dup MANE Select	ENSP00000482968.1:n.12114+5_12114+66dup
ENST00000651057.1:c.2268+5_2268+66dup	ENSP00000498504.1:n.2268+5_2268+66dup
ENST00000651434.1:c.3470+5_3470+66dup
ENST00000651750.1:c.1260+560_1260+621dup
ENST00000652487.1:c.3285+5_3285+66dup
ENST00000464408.3:n.289+5_289+66dup
ENST00000484298.5:c.11988+5_11988+66dup	ENSP00000478155.1:n.11988+5_11988+66dup
ENST00000613296.4:c.12114+5_12114+66dup	ENSP00000482968.1:n.12114+5_12114+66dup
ENST00000620466.4:n.5917+5_5917+66dup
NM_015120.4:c.12117+5_12117+66dup , LRG_741t1:c.12117+5_12117+66dup	NP_055935.4:n.12117+5_12117+66dup
NM_001378454.1:c.12114+5_12114+66dup MANE Select	NP_001365383.1:n.12114+5_12114+66dup