Canonical Allele Identifier: CA8376159

Gene: RPL26

Linked Data

• ClinVar Variation Id: 514617
• ClinVar RCV Id: RCV000608204 ; RCV002491279
• dbSNP Id: rs533883480
• ExAC: 17:8285647 TAA / T
• gnomAD v2: 17-8285647-TAA-T
• gnomAD v3: 17-8382329-TAA-T
• gnomAD v4: 17-8382329-TAA-T
• MyVariant Identifiers: chr17:g.8285648_8285649del (hg19) ; chr17:g.8382331_8382332del (hg38) ; chr17:g.8382330_8382331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8382333_8382334del , CM000679.2:g.8382333_8382334del	GRCh38
NC_000017.10:g.8285651_8285652del , CM000679.1:g.8285651_8285652del	GRCh37
NC_000017.9:g.8226376_8226377del	NCBI36
NG_031989.1:g.5917_5918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583011.6:c.-21_-20del	ENSP00000462322.1:n.-21_-20del
ENST00000584164.6:c.-5-16_-5-15del	ENSP00000463784.1:n.-5-16_-5-15del
ENST00000584343.6:c.-5-16_-5-15del	ENSP00000464239.1:n.-5-16_-5-15del
ENST00000648839.1:c.-5-16_-5-15del MANE Select	ENSP00000498177.1:n.-5-16_-5-15del
ENST00000293842.9:c.-5-16_-5-15del	ENSP00000293842.5:n.-5-16_-5-15del
ENST00000578115.1:n.38-16_38-15del
ENST00000578812.5:c.-5-16_-5-15del	ENSP00000463910.1:n.-5-16_-5-15del
ENST00000582471.1:c.-5-16_-5-15del	ENSP00000463847.1:n.-5-16_-5-15del
ENST00000582556.5:c.-5-16_-5-15del	ENSP00000463470.1:n.-5-16_-5-15del
ENST00000583011.5:c.-21_-20del	ENSP00000462322.1:n.-21_-20del
ENST00000583515.1:c.-21_-20del	ENSP00000463021.1:n.-21_-20del
ENST00000584164.5:c.-5-16_-5-15del	ENSP00000463784.1:n.-5-16_-5-15del
ENST00000584343.5:c.-5-16_-5-15del	ENSP00000464239.1:n.-5-16_-5-15del
ENST00000585176.1:n.37-241_37-240del
NM_000987.3:c.-5-16_-5-15del	NP_000978.1:n.-5-16_-5-15del
NM_001315530.1:c.-5-16_-5-15del	NP_001302459.1:n.-5-16_-5-15del
NM_001315531.1:c.-5-16_-5-15del	NP_001302460.1:n.-5-16_-5-15del
NM_000987.5:c.-5-16_-5-15del MANE Select	NP_000978.1:n.-5-16_-5-15del
NM_001315530.2:c.-5-16_-5-15del	NP_001302459.1:n.-5-16_-5-15del
NM_001315531.2:c.-5-16_-5-15del	NP_001302460.1:n.-5-16_-5-15del