Canonical Allele Identifier: CA2689285218

Gene: SLC1A1 SPATA6L

Linked Data

• gnomAD v4: 9-4576797-G-GTATCAGTGATGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576797_4576798insTATCAGTGATGACA , CM000671.2:g.4576797_4576798insTATCAGTGATGACA	GRCh38
NC_000009.11:g.4576797_4576798insTATCAGTGATGACA , CM000671.1:g.4576797_4576798insTATCAGTGATGACA	GRCh37
NC_000009.10:g.4566797_4566798insTATCAGTGATGACA	NCBI36
NG_017044.1:g.91371_91372insTATCAGTGATGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1193+34_1193+35insTATCAGTGATGACA (SLC1A1) MANE Select	ENSP00000262352.3:n.1193+34_1193+35insTAT...
ENST00000262352.7:c.1193+34_1193+35insTATCAGTGATGACA (SLC1A1)	ENSP00000262352.3:n.1193+34_1193+35insTAT...
ENST00000422398.1:c.480+34_480+35insTATCAGTGATGACA (SLC1A1)
ENST00000485616.5:c.*782-22410_*782-22409insTGTCATCACTGATA (SPATA6L)	ENSP00000420003.1:n.*782-22410_*782-22409...
NM_004170.5:c.1193+34_1193+35insTATCAGTGATGACA (SLC1A1)	NP_004161.4:n.1193+34_1193+35insTATCAGTGA...
XM_011518007.1:c.1262+34_1262+35insTATCAGTGATGACA (SLC1A1)	XP_011516309.1:n.1262+34_1262+35insTATCAG...
XM_011518008.1:c.1202+34_1202+35insTATCAGTGATGACA (SLC1A1)	XP_011516310.1:n.1202+34_1202+35insTATCAG...
XM_011518009.1:c.1133+34_1133+35insTATCAGTGATGACA (SLC1A1)	XP_011516311.1:n.1133+34_1133+35insTATCAG...
XM_011518010.1:c.1052+34_1052+35insTATCAGTGATGACA (SLC1A1)	XP_011516312.1:n.1052+34_1052+35insTATCAG...
XM_011518008.3:c.1202+34_1202+35insTATCAGTGATGACA (SLC1A1)	XP_011516310.1:n.1202+34_1202+35insTATCAG...
XM_011518009.3:c.1133+34_1133+35insTATCAGTGATGACA (SLC1A1)	XP_011516311.1:n.1133+34_1133+35insTATCAG...
XM_017014882.2:c.*1+27381_*1+27382insTGTCATCACTGATA (SPATA6L)	XP_016870371.1:n.*1+27381_*1+27382insTGTC...
XM_017015042.1:c.1154+34_1154+35insTATCAGTGATGACA (SLC1A1)	XP_016870531.1:n.1154+34_1154+35insTATCAG...
XM_017015043.1:c.1085+34_1085+35insTATCAGTGATGACA (SLC1A1)	XP_016870532.1:n.1085+34_1085+35insTATCAG...
XR_001746335.2:n.1478+23855_1478+23856insTGTCATCACTGATA (SPATA6L)
NM_004170.6:c.1193+34_1193+35insTATCAGTGATGACA (SLC1A1) MANE Select	NP_004161.4:n.1193+34_1193+35insTATCAGTGA...