Canonical Allele Identifier: CA2556739422

Gene: SLC1A1 SPATA6L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4567312_4567314del , CM000671.2:g.4567312_4567314del	GRCh38
NC_000009.11:g.4567312_4567314del , CM000671.1:g.4567312_4567314del	GRCh37
NC_000009.10:g.4557312_4557314del	NCBI36
NG_017044.1:g.81886_81888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262352.8:c.484-357_484-355del (SLC1A1) MANE Select	ENSP00000262352.3:n.484-357_484-355del
ENST00000262352.7:c.484-357_484-355del (SLC1A1)	ENSP00000262352.3:n.484-357_484-355del
ENST00000485616.5:c.*782-12924_*782-12922del (SPATA6L)	ENSP00000420003.1:n.*782-12924_*782-12922del
NM_004170.5:c.484-357_484-355del (SLC1A1)	NP_004161.4:n.484-357_484-355del
XM_011518007.1:c.553-357_553-355del (SLC1A1)	XP_011516309.1:n.553-357_553-355del
XM_011518008.1:c.493-357_493-355del (SLC1A1)	XP_011516310.1:n.493-357_493-355del
XM_011518009.1:c.424-357_424-355del (SLC1A1)	XP_011516311.1:n.424-357_424-355del
XM_011518010.1:c.343-357_343-355del (SLC1A1)	XP_011516312.1:n.343-357_343-355del
XM_011518008.3:c.493-357_493-355del (SLC1A1)	XP_011516310.1:n.493-357_493-355del
XM_011518009.3:c.424-357_424-355del (SLC1A1)	XP_011516311.1:n.424-357_424-355del
XM_017014882.2:c.*2-26122_*2-26120del (SPATA6L)	XP_016870371.1:n.*2-26122_*2-26120del
XM_017015042.1:c.553-357_553-355del (SLC1A1)	XP_016870531.1:n.553-357_553-355del
XM_017015043.1:c.484-357_484-355del (SLC1A1)	XP_016870532.1:n.484-357_484-355del
XR_001746335.2:n.1479-26122_1479-26120del (SPATA6L)
NM_004170.6:c.484-357_484-355del (SLC1A1) MANE Select	NP_004161.4:n.484-357_484-355del