Canonical Allele Identifier: CA2679405060

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73644409-T-TTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644412_73644415dup , CM000668.2:g.73644412_73644415dup	GRCh38
NC_000006.11:g.74354135_74354138dup , CM000668.1:g.74354135_74354138dup	GRCh37
NC_000006.10:g.74410856_74410859dup	NCBI36
NG_008272.1:g.14602_14605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.285_288dup MANE Select	ENSP00000348019.5:p.Thr97SerfsTer4
ENST00000355773.5:c.285_288dup	ENSP00000348019.5:p.Thr97SerfsTer4
ENST00000481996.1:n.51_54dup
NM_012434.4:c.285_288dup	NP_036566.1:p.Thr97SerfsTer4
XM_005248710.2:c.234_237dup	XP_005248767.1:p.Thr80SerfsTer4
XM_005248711.1:c.87_90dup	XP_005248768.1:p.Thr31SerfsTer4
XM_011535750.1:c.285_288dup	XP_011534052.1:p.Thr97SerfsTer4
XM_011535751.1:c.285_288dup	XP_011534053.1:p.Thr97SerfsTer4
NM_012434.5:c.285_288dup MANE Select	NP_036566.1:p.Thr97SerfsTer4
NM_001382629.1:c.61-2489_61-2486dup	NP_001369558.1:n.61-2489_61-2486dup
NM_001382630.1:c.285_288dup	NP_001369559.1:p.Thr97SerfsTer4
NM_001382631.1:c.306_309dup	NP_001369560.1:p.Thr104SerfsTer4
NM_001382632.1:c.285_288dup	NP_001369561.1:p.Thr97SerfsTer4
NM_001382633.1:c.285_288dup	NP_001369562.1:p.Thr97SerfsTer4
NM_001382634.1:c.285_288dup	NP_001369563.1:p.Thr97SerfsTer4
NM_001382635.1:c.285_288dup	NP_001369564.1:p.Thr97SerfsTer4
NM_001382636.1:c.61-2489_61-2486dup	NP_001369565.1:n.61-2489_61-2486dup