Canonical Allele Identifier: CA1120703496
Gene: SLC1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1820840581

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507324del , CM000671.2:g.4507324del GRCh38
NC_000009.11:g.4507324del , CM000671.1:g.4507324del GRCh37
NC_000009.10:g.4497324del NCBI36
NG_017044.1:g.21898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16554del MANE Select ENSP00000262352.3:n.91+16554del
ENST00000262352.7:c.91+16554del ENSP00000262352.3:n.91+16554del
NM_004170.5:c.91+16554del NP_004161.4:n.91+16554del
XM_011518007.1:c.92-12504del XP_011516309.1:n.92-12504del
XM_011518010.1:c.91+16554del XP_011516312.1:n.91+16554del
XM_017015042.1:c.92-12504del XP_016870531.1:n.92-12504del
XM_017015043.1:c.91+16554del XP_016870532.1:n.91+16554del
NM_004170.6:c.91+16554del MANE Select NP_004161.4:n.91+16554del