Canonical Allele Identifier: CA16042220
Gene: SLC1A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372157
ClinVar RCV Id: RCV000412627
dbSNP Id: rs1057517664

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.65016583_65016584del , CM000664.2:g.65016583_65016584del GRCh38
NC_000002.11:g.65243717_65243718del , CM000664.1:g.65243717_65243718del GRCh37
NC_000002.10:g.65097221_65097222del NCBI36
NG_053002.1:g.33139_33140del

Transcript Alleles

HGVS Amino-acid change
ENST00000234256.4:c.944_945del MANE Select ENSP00000234256.3:p.Leu315HisfsTer?
ENST00000234256.3:c.944_945del ENSP00000234256.3:p.Leu315HisfsTer?
ENST00000471551.5:n.405-1488_405-1487del
ENST00000480594.1:n.2417_2418del
ENST00000531327.5:c.141-1488_141-1487del ENSP00000431942.1:n.141-1488_141-1487del
NM_001193493.1:c.141-1488_141-1487del NP_001180422.1:n.141-1488_141-1487del
NM_003038.4:c.944_945del NP_003029.2:p.Leu315HisfsTer?
XM_006712079.1:c.284_285del XP_006712142.1:p.Leu95HisfsTer?
NM_001348406.1:c.284_285del NP_001335335.1:p.Leu95HisfsTer?
NM_001348407.1:c.284_285del NP_001335336.1:p.Leu95HisfsTer?
XR_002959394.1:n.562+31370_562+31371del
XR_002959395.1:n.621+31370_621+31371del
XR_002959396.1:n.561+31370_561+31371del
XR_002959397.1:n.302+31370_302+31371del
XR_002959398.1:n.561+31370_561+31371del
XR_002959399.1:n.558+31370_558+31371del
NM_003038.5:c.944_945del MANE Select NP_003029.2:p.Leu315HisfsTer?
NM_001193493.2:c.141-1488_141-1487del NP_001180422.1:n.141-1488_141-1487del
NM_001348406.2:c.284_285del NP_001335335.1:p.Leu95HisfsTer?
NM_001348407.2:c.284_285del NP_001335336.1:p.Leu95HisfsTer?