Canonical Allele Identifier: CA1577405

Gene: SNX17

Linked Data

• dbSNP Id: rs762169404
• ExAC: 2:27598009 T / TC
• gnomAD v2: 2-27598009-T-TC
• MyVariant Identifiers: chr2:g.27598009_27598010insC (hg19) ; chr2:g.27375142_27375143insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375144dup , CM000664.2:g.27375144dup	GRCh38
NC_000002.11:g.27598011dup , CM000664.1:g.27598011dup	GRCh37
NC_000002.10:g.27451515dup	NCBI36
NG_009305.1:g.315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.765dup MANE Select	ENSP00000233575.2:p.Lys256GlnfsTer20
ENST00000233575.6:c.765dup	ENSP00000233575.2:p.Lys256GlnfsTer20
ENST00000427123.5:c.*575dup	ENSP00000405399.1:n.*575dup
ENST00000440760.5:c.*610dup	ENSP00000399727.1:n.*610dup
ENST00000453453.1:c.*292dup	ENSP00000401922.1:n.*292dup
ENST00000493711.1:n.482dup
ENST00000494893.5:n.941dup
ENST00000537606.5:c.690dup	ENSP00000439208.1:p.Lys231GlnfsTer20
NM_001267059.1:c.729dup	NP_001253988.1:p.Lys244GlnfsTer20
NM_001267060.1:c.690dup	NP_001253989.1:p.Lys231GlnfsTer20
NM_001267061.1:c.705dup	NP_001253990.1:p.Lys236GlnfsTer20
NM_014748.3:c.765dup	NP_055563.1:p.Lys256GlnfsTer20
NR_049782.1:n.1138dup
NR_049783.1:n.1111dup
NR_049784.1:n.1087dup
NR_049785.1:n.1020dup
NR_049786.1:n.969dup
NR_049787.1:n.820dup
NR_049788.1:n.750dup
XM_011533203.1:c.123dup	XP_011531505.1:p.Lys42GlnfsTer20
XM_011533203.2:c.123dup	XP_011531505.1:p.Lys42GlnfsTer20
XM_017005405.2:c.123dup	XP_016860894.1:p.Lys42GlnfsTer20
NM_014748.4:c.765dup MANE Select	NP_055563.1:p.Lys256GlnfsTer20
NM_001267059.2:c.729dup	NP_001253988.1:p.Lys244GlnfsTer20
NM_001267061.2:c.705dup	NP_001253990.1:p.Lys236GlnfsTer20
NR_049782.2:n.1018dup
NR_049783.2:n.991dup
NR_049784.2:n.967dup
NR_049785.2:n.900dup
NR_049786.2:n.849dup
NR_049787.2:n.700dup
NR_049788.2:n.630dup
NM_001267060.2:c.690dup	NP_001253989.1:p.Lys231GlnfsTer20