Canonical Allele Identifier: CA4938005

Gene: FBXL6 SLC52A2

Linked Data

• dbSNP Id: rs781915039
• ExAC: 8:145581933 CGCGGGGCCGG / C
• gnomAD v2: 8-145581933-CGCGGGGCCGG-C
• gnomAD v3: 8-144358273-CGCGGGGCCGG-C
• gnomAD v4: 8-144358273-CGCGGGGCCGG-C
• MyVariant Identifiers: chr8:g.145581934_145581943del (hg19) ; chr8:g.144358274_144358283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144358285_144358294del , CM000670.2:g.144358285_144358294del	GRCh38
NC_000008.10:g.145581945_145581954del , CM000670.1:g.145581945_145581954del	GRCh37
NC_000008.9:g.145552753_145552762del	NCBI36
NG_032872.1:g.4729_4738del
NG_032872.2:g.4729_4738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331890.6:c.165_174del (FBXL6) MANE Select	ENSP00000330098.5:p.Arg56HisfsTer?
ENST00000532815.2:c.-111+683_-111+692del (SLC52A2)	ENSP00000501933.1:n.-111+683_-111+692del
ENST00000675292.1:c.-110-899_-110-890del (SLC52A2)	ENSP00000502652.1:n.-110-899_-110-890del
ENST00000675888.1:c.-110-899_-110-890del (SLC52A2)	ENSP00000502294.1:n.-110-899_-110-890del
ENST00000331890.5:c.165_174del (FBXL6)	ENSP00000330098.5:p.Arg56HisfsTer?
ENST00000455319.6:c.165_174del (FBXL6)	ENSP00000403873.2:p.Arg56HisfsTer?
ENST00000524541.5:c.-110-899_-110-890del (SLC52A2)	ENSP00000434239.1:n.-110-899_-110-890del
ENST00000530142.5:n.991_1000del (FBXL6)
ENST00000532815.1:n.399+683_399+692del (SLC52A2)
NM_012162.3:c.165_174del (FBXL6)	NP_036294.2:p.Arg56HisfsTer?
NM_024555.5:c.165_174del (FBXL6)	NP_078831.4:p.Arg56HisfsTer?
NM_012162.4:c.165_174del (FBXL6) MANE Select	NP_036294.2:p.Arg56HisfsTer?
NM_024555.6:c.165_174del (FBXL6)	NP_078831.4:p.Arg56HisfsTer?