Canonical Allele Identifier: CA531449147

Gene: SNX17

Linked Data

• dbSNP Id: rs1447813830
• gnomAD v2: 2-27598034-CCTCT-C
• gnomAD v4: 2-27375167-CCTCT-C
• MyVariant Identifiers: chr2:g.27598035_27598038del (hg19) ; chr2:g.27375168_27375171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375170_27375173del , CM000664.2:g.27375170_27375173del	GRCh38
NC_000002.11:g.27598037_27598040del , CM000664.1:g.27598037_27598040del	GRCh37
NC_000002.10:g.27451541_27451544del	NCBI36
NG_009305.1:g.287_290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.774+17_774+20del MANE Select	ENSP00000233575.2:n.774+17_774+20del
ENST00000233575.6:c.774+17_774+20del	ENSP00000233575.2:n.774+17_774+20del
ENST00000427123.5:c.*584+17_*584+20del	ENSP00000405399.1:n.*584+17_*584+20del
ENST00000440760.5:c.*619+17_*619+20del	ENSP00000399727.1:n.*619+17_*619+20del
ENST00000453453.1:c.*301+17_*301+20del	ENSP00000401922.1:n.*301+17_*301+20del
ENST00000493711.1:n.491+17_491+20del
ENST00000494893.5:n.950+17_950+20del
ENST00000537606.5:c.699+17_699+20del	ENSP00000439208.1:n.699+17_699+20del
NM_001267059.1:c.738+17_738+20del	NP_001253988.1:n.738+17_738+20del
NM_001267060.1:c.699+17_699+20del	NP_001253989.1:n.699+17_699+20del
NM_001267061.1:c.714+17_714+20del	NP_001253990.1:n.714+17_714+20del
NM_014748.3:c.774+17_774+20del	NP_055563.1:n.774+17_774+20del
NR_049782.1:n.1147+17_1147+20del
NR_049783.1:n.1120+17_1120+20del
NR_049784.1:n.1096+17_1096+20del
NR_049785.1:n.1029+17_1029+20del
NR_049786.1:n.978+17_978+20del
NR_049787.1:n.829+17_829+20del
NR_049788.1:n.759+17_759+20del
XM_011533203.1:c.132+17_132+20del	XP_011531505.1:n.132+17_132+20del
XM_011533203.2:c.132+17_132+20del	XP_011531505.1:n.132+17_132+20del
XM_017005405.2:c.132+17_132+20del	XP_016860894.1:n.132+17_132+20del
NM_014748.4:c.774+17_774+20del MANE Select	NP_055563.1:n.774+17_774+20del
NM_001267059.2:c.738+17_738+20del	NP_001253988.1:n.738+17_738+20del
NM_001267061.2:c.714+17_714+20del	NP_001253990.1:n.714+17_714+20del
NR_049782.2:n.1027+17_1027+20del
NR_049783.2:n.1000+17_1000+20del
NR_049784.2:n.976+17_976+20del
NR_049785.2:n.909+17_909+20del
NR_049786.2:n.858+17_858+20del
NR_049787.2:n.709+17_709+20del
NR_049788.2:n.639+17_639+20del
NM_001267060.2:c.699+17_699+20del	NP_001253989.1:n.699+17_699+20del