Canonical Allele Identifier: CA865010486

Gene: SLC1A1 SPATA6L

Linked Data

• dbSNP Id: rs1304669989
• gnomAD v4: 9-4576680-TG-T
• MyVariant Identifiers: chr9:g.4576681del (hg19) ; chr9:g.4576681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4576681del , CM000671.2:g.4576681del	GRCh38
NC_000009.11:g.4576681del , CM000671.1:g.4576681del	GRCh37
NC_000009.10:g.4566681del	NCBI36
NG_017044.1:g.91255del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262352.8:c.1111del (SLC1A1) MANE Select	ENSP00000262352.3:p.Ala371ArgfsTer14
ENST00000262352.7:c.1111del (SLC1A1)	ENSP00000262352.3:p.Ala371ArgfsTer14
ENST00000422398.1:c.398del (SLC1A1)
ENST00000485616.5:c.*782-22293del (SPATA6L)	ENSP00000420003.1:n.*782-22293del
NM_004170.5:c.1111del (SLC1A1)	NP_004161.4:p.Ala371ArgfsTer14
XM_011518007.1:c.1180del (SLC1A1)	XP_011516309.1:p.Ala394ArgfsTer14
XM_011518008.1:c.1120del (SLC1A1)	XP_011516310.1:p.Ala374ArgfsTer14
XM_011518009.1:c.1051del (SLC1A1)	XP_011516311.1:p.Ala351ArgfsTer14
XM_011518010.1:c.970del (SLC1A1)	XP_011516312.1:p.Ala324ArgfsTer14
XM_011518008.3:c.1120del (SLC1A1)	XP_011516310.1:p.Ala374ArgfsTer14
XM_011518009.3:c.1051del (SLC1A1)	XP_011516311.1:p.Ala351ArgfsTer14
XM_017014882.2:c.*1+27498del (SPATA6L)	XP_016870371.1:n.*1+27498del
XM_017015042.1:c.1072del (SLC1A1)	XP_016870531.1:p.Ala358ArgfsTer14
XM_017015043.1:c.1003del (SLC1A1)	XP_016870532.1:p.Ala335ArgfsTer14
XR_001746335.2:n.1478+23972del (SPATA6L)
NM_004170.6:c.1111del (SLC1A1) MANE Select	NP_004161.4:p.Ala371ArgfsTer14