Canonical Allele Identifier: CA767386425

Gene: SNX17

Linked Data

• dbSNP Id: rs1271682129
• gnomAD v3: 2-27375120-CAA-C
• gnomAD v4: 2-27375120-CAA-C
• MyVariant Identifiers: chr2:g.27597988_27597989del (hg19) ; chr2:g.27375121_27375122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375122_27375123del , CM000664.2:g.27375122_27375123del	GRCh38
NC_000002.11:g.27597989_27597990del , CM000664.1:g.27597989_27597990del	GRCh37
NC_000002.10:g.27451493_27451494del	NCBI36
NG_009305.1:g.336_337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.743_744del MANE Select	ENSP00000233575.2:p.Lys248IlefsTer27
ENST00000233575.6:c.743_744del	ENSP00000233575.2:p.Lys248IlefsTer27
ENST00000427123.5:c.*553_*554del	ENSP00000405399.1:n.*553_*554del
ENST00000440760.5:c.*588_*589del	ENSP00000399727.1:n.*588_*589del
ENST00000453453.1:c.*270_*271del	ENSP00000401922.1:n.*270_*271del
ENST00000493711.1:n.460_461del
ENST00000494893.5:n.919_920del
ENST00000537606.5:c.668_669del	ENSP00000439208.1:p.Lys223IlefsTer27
NM_001267059.1:c.707_708del	NP_001253988.1:p.Lys236IlefsTer27
NM_001267060.1:c.668_669del	NP_001253989.1:p.Lys223IlefsTer27
NM_001267061.1:c.683_684del	NP_001253990.1:p.Lys228IlefsTer27
NM_014748.3:c.743_744del	NP_055563.1:p.Lys248IlefsTer27
NR_049782.1:n.1116_1117del
NR_049783.1:n.1089_1090del
NR_049784.1:n.1065_1066del
NR_049785.1:n.998_999del
NR_049786.1:n.947_948del
NR_049787.1:n.798_799del
NR_049788.1:n.728_729del
XM_011533203.1:c.101_102del	XP_011531505.1:p.Lys34IlefsTer27
XM_011533203.2:c.101_102del	XP_011531505.1:p.Lys34IlefsTer27
XM_017005405.2:c.101_102del	XP_016860894.1:p.Lys34IlefsTer27
NM_014748.4:c.743_744del MANE Select	NP_055563.1:p.Lys248IlefsTer27
NM_001267059.2:c.707_708del	NP_001253988.1:p.Lys236IlefsTer27
NM_001267061.2:c.683_684del	NP_001253990.1:p.Lys228IlefsTer27
NR_049782.2:n.996_997del
NR_049783.2:n.969_970del
NR_049784.2:n.945_946del
NR_049785.2:n.878_879del
NR_049786.2:n.827_828del
NR_049787.2:n.678_679del
NR_049788.2:n.608_609del
NM_001267060.2:c.668_669del	NP_001253989.1:p.Lys223IlefsTer27