Canonical Allele Identifier: CA1829376012
Gene: SLC1A1 HGNC NCBI
SPATA6L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4567312_4567313delinsCA , CM000671.2:g.4567312_4567313delinsCA GRCh38
NC_000009.11:g.4567312_4567313delinsCA , CM000671.1:g.4567312_4567313delinsCA GRCh37
NC_000009.10:g.4557312_4557313delinsCA NCBI36
NG_017044.1:g.81886_81887delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262352.8:c.484-357_484-356delinsCA (SLC1A1) MANE Select ENSP00000262352.3:n.484-357_484-356delinsCA
ENST00000262352.7:c.484-357_484-356delinsCA (SLC1A1) ENSP00000262352.3:n.484-357_484-356delinsCA
ENST00000485616.5:c.*782-12925_*782-12924delinsTG (SPATA6L) ENSP00000420003.1:n.*782-12925_*782-12924delinsTG
NM_004170.5:c.484-357_484-356delinsCA (SLC1A1) NP_004161.4:n.484-357_484-356delinsCA
XM_011518007.1:c.553-357_553-356delinsCA (SLC1A1) XP_011516309.1:n.553-357_553-356delinsCA
XM_011518008.1:c.493-357_493-356delinsCA (SLC1A1) XP_011516310.1:n.493-357_493-356delinsCA
XM_011518009.1:c.424-357_424-356delinsCA (SLC1A1) XP_011516311.1:n.424-357_424-356delinsCA
XM_011518010.1:c.343-357_343-356delinsCA (SLC1A1) XP_011516312.1:n.343-357_343-356delinsCA
XM_011518008.3:c.493-357_493-356delinsCA (SLC1A1) XP_011516310.1:n.493-357_493-356delinsCA
XM_011518009.3:c.424-357_424-356delinsCA (SLC1A1) XP_011516311.1:n.424-357_424-356delinsCA
XM_017014882.2:c.*2-26123_*2-26122delinsTG (SPATA6L) XP_016870371.1:n.*2-26123_*2-26122delinsTG
XM_017015042.1:c.553-357_553-356delinsCA (SLC1A1) XP_016870531.1:n.553-357_553-356delinsCA
XM_017015043.1:c.484-357_484-356delinsCA (SLC1A1) XP_016870532.1:n.484-357_484-356delinsCA
XR_001746335.2:n.1479-26123_1479-26122delinsTG (SPATA6L)
NM_004170.6:c.484-357_484-356delinsCA (SLC1A1) MANE Select NP_004161.4:n.484-357_484-356delinsCA