Canonical Allele Identifier: CA2579292336

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576799_4576800dup , CM000671.2:g.4576799_4576800dup	GRCh38
NC_000009.11:g.4576799_4576800dup , CM000671.1:g.4576799_4576800dup	GRCh37
NC_000009.10:g.4566799_4566800dup	NCBI36
NG_017044.1:g.91373_91374dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1193+36_1193+37dup (SLC1A1) MANE Select	ENSP00000262352.3:n.1193+36_1193+37dup
ENST00000262352.7:c.1193+36_1193+37dup (SLC1A1)	ENSP00000262352.3:n.1193+36_1193+37dup
ENST00000422398.1:c.480+36_480+37dup (SLC1A1)
ENST00000485616.5:c.*782-22411_*782-22410dup (SPATA6L)	ENSP00000420003.1:n.*782-22411_*782-22410...
NM_004170.5:c.1193+36_1193+37dup (SLC1A1)	NP_004161.4:n.1193+36_1193+37dup
XM_011518007.1:c.1262+36_1262+37dup (SLC1A1)	XP_011516309.1:n.1262+36_1262+37dup
XM_011518008.1:c.1202+36_1202+37dup (SLC1A1)	XP_011516310.1:n.1202+36_1202+37dup
XM_011518009.1:c.1133+36_1133+37dup (SLC1A1)	XP_011516311.1:n.1133+36_1133+37dup
XM_011518010.1:c.1052+36_1052+37dup (SLC1A1)	XP_011516312.1:n.1052+36_1052+37dup
XM_011518008.3:c.1202+36_1202+37dup (SLC1A1)	XP_011516310.1:n.1202+36_1202+37dup
XM_011518009.3:c.1133+36_1133+37dup (SLC1A1)	XP_011516311.1:n.1133+36_1133+37dup
XM_017014882.2:c.*1+27380_*1+27381dup (SPATA6L)	XP_016870371.1:n.*1+27380_*1+27381dup
XM_017015042.1:c.1154+36_1154+37dup (SLC1A1)	XP_016870531.1:n.1154+36_1154+37dup
XM_017015043.1:c.1085+36_1085+37dup (SLC1A1)	XP_016870532.1:n.1085+36_1085+37dup
XR_001746335.2:n.1478+23854_1478+23855dup (SPATA6L)
NM_004170.6:c.1193+36_1193+37dup (SLC1A1) MANE Select	NP_004161.4:n.1193+36_1193+37dup