Canonical Allele Identifier: CA1638224011

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600505_73600509delinsCTTCT , CM000668.2:g.73600505_73600509delinsCTTCT	GRCh38
NC_000006.11:g.74310228_74310232delinsCTTCT , CM000668.1:g.74310228_74310232delinsCTTCT	GRCh37
NC_000006.10:g.74366949_74366953delinsCTTCT	NCBI36
NG_008272.1:g.58506_58510delinsAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-68_1260-64delinsAGAAG MANE Select	ENSP00000348019.5:n.1260-68_1260-64delinsAGAAG
ENST00000355773.5:c.1260-68_1260-64delinsAGAAG	ENSP00000348019.5:n.1260-68_1260-64delinsAGAAG
NM_012434.4:c.1260-68_1260-64delinsAGAAG	NP_036566.1:n.1260-68_1260-64delinsAGAAG
XM_005248710.2:c.1209-68_1209-64delinsAGAAG	XP_005248767.1:n.1209-68_1209-64delinsAGAAG
XM_005248711.1:c.1062-68_1062-64delinsAGAAG	XP_005248768.1:n.1062-68_1062-64delinsAGAAG
XM_011535750.1:c.1112-68_1112-64delinsAGAAG	XP_011534052.1:n.1112-68_1112-64delinsAGAAG
NM_012434.5:c.1260-68_1260-64delinsAGAAG MANE Select	NP_036566.1:n.1260-68_1260-64delinsAGAAG
NM_001382629.1:c.1029-68_1029-64delinsAGAAG	NP_001369558.1:n.1029-68_1029-64delinsAGAAG
NM_001382630.1:c.1260-5295_1260-5291delinsAGAAG	NP_001369559.1:n.1260-5295_1260-5291delinsAGAAG
NM_001382631.1:c.1281-68_1281-64delinsAGAAG	NP_001369560.1:n.1281-68_1281-64delinsAGAAG
NM_001382632.1:c.1173-68_1173-64delinsAGAAG	NP_001369561.1:n.1173-68_1173-64delinsAGAAG
NM_001382633.1:c.1260-68_1260-64delinsAGAAG	NP_001369562.1:n.1260-68_1260-64delinsAGAAG
NM_001382634.1:c.1101-68_1101-64delinsAGAAG	NP_001369563.1:n.1101-68_1101-64delinsAGAAG
NM_001382635.1:c.1257-68_1257-64delinsAGAAG	NP_001369564.1:n.1257-68_1257-64delinsAGAAG
NM_001382636.1:c.942-68_942-64delinsAGAAG	NP_001369565.1:n.942-68_942-64delinsAGAAG