Canonical Allele Identifier: CA2537213298
Gene: SLC1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507241_4507246del , CM000671.2:g.4507241_4507246del GRCh38
NC_000009.11:g.4507241_4507246del , CM000671.1:g.4507241_4507246del GRCh37
NC_000009.10:g.4497241_4497246del NCBI36
NG_017044.1:g.21815_21820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16471_91+16476del MANE Select ENSP00000262352.3:n.91+16471_91+16476del
ENST00000262352.7:c.91+16471_91+16476del ENSP00000262352.3:n.91+16471_91+16476del
NM_004170.5:c.91+16471_91+16476del NP_004161.4:n.91+16471_91+16476del
XM_011518007.1:c.92-12587_92-12582del XP_011516309.1:n.92-12587_92-12582del
XM_011518010.1:c.91+16471_91+16476del XP_011516312.1:n.91+16471_91+16476del
XM_017015042.1:c.92-12587_92-12582del XP_016870531.1:n.92-12587_92-12582del
XM_017015043.1:c.91+16471_91+16476del XP_016870532.1:n.91+16471_91+16476del
NM_004170.6:c.91+16471_91+16476del MANE Select NP_004161.4:n.91+16471_91+16476del