Canonical Allele Identifier: CA2576977419

Gene: SNX17

Linked Data

• gnomAD v4: 2-27375135-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375137_27375138del , CM000664.2:g.27375137_27375138del	GRCh38
NC_000002.11:g.27598004_27598005del , CM000664.1:g.27598004_27598005del	GRCh37
NC_000002.10:g.27451508_27451509del	NCBI36
NG_009305.1:g.321_322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.758_759del MANE Select	ENSP00000233575.2:p.Lys253SerfsTer22
ENST00000233575.6:c.758_759del	ENSP00000233575.2:p.Lys253SerfsTer22
ENST00000427123.5:c.*568_*569del	ENSP00000405399.1:n.*568_*569del
ENST00000440760.5:c.*603_*604del	ENSP00000399727.1:n.*603_*604del
ENST00000453453.1:c.*285_*286del	ENSP00000401922.1:n.*285_*286del
ENST00000493711.1:n.475_476del
ENST00000494893.5:n.934_935del
ENST00000537606.5:c.683_684del	ENSP00000439208.1:p.Lys228SerfsTer22
NM_001267059.1:c.722_723del	NP_001253988.1:p.Lys241SerfsTer22
NM_001267060.1:c.683_684del	NP_001253989.1:p.Lys228SerfsTer22
NM_001267061.1:c.698_699del	NP_001253990.1:p.Lys233SerfsTer22
NM_014748.3:c.758_759del	NP_055563.1:p.Lys253SerfsTer22
NR_049782.1:n.1131_1132del
NR_049783.1:n.1104_1105del
NR_049784.1:n.1080_1081del
NR_049785.1:n.1013_1014del
NR_049786.1:n.962_963del
NR_049787.1:n.813_814del
NR_049788.1:n.743_744del
XM_011533203.1:c.116_117del	XP_011531505.1:p.Lys39SerfsTer22
XM_011533203.2:c.116_117del	XP_011531505.1:p.Lys39SerfsTer22
XM_017005405.2:c.116_117del	XP_016860894.1:p.Lys39SerfsTer22
NM_014748.4:c.758_759del MANE Select	NP_055563.1:p.Lys253SerfsTer22
NM_001267059.2:c.722_723del	NP_001253988.1:p.Lys241SerfsTer22
NM_001267061.2:c.698_699del	NP_001253990.1:p.Lys233SerfsTer22
NR_049782.2:n.1011_1012del
NR_049783.2:n.984_985del
NR_049784.2:n.960_961del
NR_049785.2:n.893_894del
NR_049786.2:n.842_843del
NR_049787.2:n.693_694del
NR_049788.2:n.623_624del
NM_001267060.2:c.683_684del	NP_001253989.1:p.Lys228SerfsTer22