Canonical Allele Identifier: CA1829385580
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4576680_4576681delinsTG , CM000671.2:g.4576680_4576681delinsTG GRCh38
NC_000009.11:g.4576680_4576681delinsTG , CM000671.1:g.4576680_4576681delinsTG GRCh37
NC_000009.10:g.4566680_4566681delinsTG NCBI36
NG_017044.1:g.91254_91255delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000262352.8:c.1110_1111delinsTG (SLC1A1) MANE Select ENSP00000262352.3:p.Thr370=
ENST00000262352.7:c.1110_1111delinsTG (SLC1A1) ENSP00000262352.3:p.Thr370=
ENST00000422398.1:c.397_398delinsTG (SLC1A1)
ENST00000485616.5:c.*782-22293_*782-22292delinsCA (SPATA6L) ENSP00000420003.1:n.*782-22293_*782-22292...
NM_004170.5:c.1110_1111delinsTG (SLC1A1) NP_004161.4:p.Thr370=
XM_011518007.1:c.1179_1180delinsTG (SLC1A1) XP_011516309.1:p.Thr393=
XM_011518008.1:c.1119_1120delinsTG (SLC1A1) XP_011516310.1:p.Thr373=
XM_011518009.1:c.1050_1051delinsTG (SLC1A1) XP_011516311.1:p.Thr350=
XM_011518010.1:c.969_970delinsTG (SLC1A1) XP_011516312.1:p.Thr323=
XM_011518008.3:c.1119_1120delinsTG (SLC1A1) XP_011516310.1:p.Thr373=
XM_011518009.3:c.1050_1051delinsTG (SLC1A1) XP_011516311.1:p.Thr350=
XM_017014882.2:c.*1+27498_*1+27499delinsCA (SPATA6L) XP_016870371.1:n.*1+27498_*1+27499delinsC...
XM_017015042.1:c.1071_1072delinsTG (SLC1A1) XP_016870531.1:p.Thr357=
XM_017015043.1:c.1002_1003delinsTG (SLC1A1) XP_016870532.1:p.Thr334=
XR_001746335.2:n.1478+23972_1478+23973delinsCA (SPATA6L)
NM_004170.6:c.1110_1111delinsTG (SLC1A1) MANE Select NP_004161.4:p.Thr370=