Canonical Allele Identifier: CA1120703471
Gene: SLC1A1 HGNC NCBI

Linked Data

gnomAD v3: 9-4507234-C-CA
gnomAD v4: 9-4507234-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4507240dup , CM000671.2:g.4507240dup GRCh38
NC_000009.11:g.4507240dup , CM000671.1:g.4507240dup GRCh37
NC_000009.10:g.4497240dup NCBI36
NG_017044.1:g.21814dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.91+16470dup MANE Select ENSP00000262352.3:n.91+16470dup
ENST00000262352.7:c.91+16470dup ENSP00000262352.3:n.91+16470dup
NM_004170.5:c.91+16470dup NP_004161.4:n.91+16470dup
XM_011518007.1:c.92-12588dup XP_011516309.1:n.92-12588dup
XM_011518010.1:c.91+16470dup XP_011516312.1:n.91+16470dup
XM_017015042.1:c.92-12588dup XP_016870531.1:n.92-12588dup
XM_017015043.1:c.91+16470dup XP_016870532.1:n.91+16470dup
NM_004170.6:c.91+16470dup MANE Select NP_004161.4:n.91+16470dup