Canonical Allele Identifier: CA1577421

Gene: SNX17

Linked Data

• dbSNP Id: rs773387763
• ExAC: 2:27598332 TCTCC / T
• gnomAD v2: 2-27598332-TCTCC-T
• gnomAD v4: 2-27375465-TCTCC-T
• MyVariant Identifiers: chr2:g.27598333_27598336del (hg19) ; chr2:g.27375466_27375469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375470_27375473del , CM000664.2:g.27375470_27375473del	GRCh38
NC_000002.11:g.27598337_27598340del , CM000664.1:g.27598337_27598340del	GRCh37
NC_000002.10:g.27451841_27451844del	NCBI36
NG_028219.1:g.10276_10279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.775-36_775-33del MANE Select	ENSP00000233575.2:n.775-36_775-33del
ENST00000233575.6:c.775-36_775-33del	ENSP00000233575.2:n.775-36_775-33del
ENST00000427123.5:c.*585-36_*585-33del	ENSP00000405399.1:n.*585-36_*585-33del
ENST00000440760.5:c.*620-36_*620-33del	ENSP00000399727.1:n.*620-36_*620-33del
ENST00000453453.1:c.*302-36_*302-33del	ENSP00000401922.1:n.*302-36_*302-33del
ENST00000493711.1:n.492-36_492-33del
ENST00000494893.5:n.951-36_951-33del
ENST00000537606.5:c.700-36_700-33del	ENSP00000439208.1:n.700-36_700-33del
NM_001267059.1:c.739-36_739-33del	NP_001253988.1:n.739-36_739-33del
NM_001267060.1:c.700-36_700-33del	NP_001253989.1:n.700-36_700-33del
NM_001267061.1:c.715-36_715-33del	NP_001253990.1:n.715-36_715-33del
NM_014748.3:c.775-36_775-33del	NP_055563.1:n.775-36_775-33del
NR_049782.1:n.1148-36_1148-33del
NR_049783.1:n.1121-36_1121-33del
NR_049784.1:n.1097-36_1097-33del
NR_049785.1:n.1030-36_1030-33del
NR_049786.1:n.979-36_979-33del
NR_049787.1:n.830-36_830-33del
NR_049788.1:n.760-36_760-33del
XM_011533203.1:c.133-36_133-33del	XP_011531505.1:n.133-36_133-33del
XM_011533203.2:c.133-36_133-33del	XP_011531505.1:n.133-36_133-33del
XM_017005405.2:c.133-36_133-33del	XP_016860894.1:n.133-36_133-33del
NM_014748.4:c.775-36_775-33del MANE Select	NP_055563.1:n.775-36_775-33del
NM_001267059.2:c.739-36_739-33del	NP_001253988.1:n.739-36_739-33del
NM_001267061.2:c.715-36_715-33del	NP_001253990.1:n.715-36_715-33del
NR_049782.2:n.1028-36_1028-33del
NR_049783.2:n.1001-36_1001-33del
NR_049784.2:n.977-36_977-33del
NR_049785.2:n.910-36_910-33del
NR_049786.2:n.859-36_859-33del
NR_049787.2:n.710-36_710-33del
NR_049788.2:n.640-36_640-33del
NM_001267060.2:c.700-36_700-33del	NP_001253989.1:n.700-36_700-33del