Canonical Allele Identifier: CA2689085474

Gene: FBXL6 SLC52A2

Linked Data

• gnomAD v4: 8-144358277-GGGCCGGGCGGGGCCGGGTTCGGACAGCACCAGCAGCATGCTGTCGGACTGCAGCAGGTGGTACCCCGAGCCCCTCGGCGCCAGCCGGTCCCACCACCAGTCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144358283_144358386del , CM000670.2:g.144358283_144358386del	GRCh38
NC_000008.10:g.145581943_145582046del , CM000670.1:g.145581943_145582046del	GRCh37
NC_000008.9:g.145552751_145552854del	NCBI36
NG_032872.1:g.4727_4830del
NG_032872.2:g.4727_4830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331890.6:c.67_170del (FBXL6) MANE Select	ENSP00000330098.5:p.Glu23ProfsTer?
ENST00000532815.2:c.-111+681_-111+784del (SLC52A2)	ENSP00000501933.1:n.-111+681_-111+784del
ENST00000675292.1:c.-110-901_-110-798del (SLC52A2)	ENSP00000502652.1:n.-110-901_-110-798del
ENST00000675888.1:c.-110-901_-110-798del (SLC52A2)	ENSP00000502294.1:n.-110-901_-110-798del
ENST00000331890.5:c.67_170del (FBXL6)	ENSP00000330098.5:p.Glu23ProfsTer?
ENST00000455319.6:c.67_170del (FBXL6)	ENSP00000403873.2:p.Glu23ProfsTer?
ENST00000524541.5:c.-110-901_-110-798del (SLC52A2)	ENSP00000434239.1:n.-110-901_-110-798del
ENST00000530142.5:n.893_996del (FBXL6)
ENST00000532815.1:n.399+681_399+784del (SLC52A2)
NM_012162.3:c.67_170del (FBXL6)	NP_036294.2:p.Glu23ProfsTer?
NM_024555.5:c.67_170del (FBXL6)	NP_078831.4:p.Glu23ProfsTer?
NM_012162.4:c.67_170del (FBXL6) MANE Select	NP_036294.2:p.Glu23ProfsTer?
NM_024555.6:c.67_170del (FBXL6)	NP_078831.4:p.Glu23ProfsTer?