Canonical Allele Identifier: CA026501
Gene: SLC46A1 HGNC NCBI

Linked Data

dbSNP Id: rs154623632
MyVariant Identifiers: chr17:g.26732935_26732936delinsTT (hg19) chr17:g.28405917_28405918delinsTT (hg38)
PubMed: PMID:20301716
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28405917_28405918delinsTT , CM000679.2:g.28405917_28405918delinsTT GRCh38
NC_000017.10:g.26732935_26732936delinsTT , CM000679.1:g.26732935_26732936delinsTT GRCh37
NC_000017.9:g.23757062_23757063delinsTT NCBI36
NG_013306.1:g.5293_5294delinsAA , LRG_183:g.5293_5294delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000612814.5:c.197_198delinsAA MANE Select ENSP00000480703.1:p.Cys66Ter
ENST00000581516.1:c.-26_-25delinsAA ENSP00000462942.1:n.-26_-25delinsAA
ENST00000582590.1:n.251_252delinsAA
ENST00000584426.1:c.-36-450_-36-449delinsAA ENSP00000467416.1:n.-36-450_-36-449delins...
ENST00000584995.5:c.-26_-25delinsAA ENSP00000464190.1:n.-26_-25delinsAA
ENST00000612814.4:c.197_198delinsAA ENSP00000480703.1:p.Cys66Ter
ENST00000618626.1:c.197_198delinsAA ENSP00000483652.1:p.Cys66Ter
NM_001242366.2:c.197_198delinsAA NP_001229295.1:p.Cys66Ter
NM_080669.5:c.197_198delinsAA NP_542400.2:p.Cys66Ter
XM_005277786.2:c.197_198delinsAA XP_005277843.1:p.Cys66Ter
XR_934643.1:n.89+466_89+467delinsTT
XM_005277786.3:c.197_198delinsAA XP_005277843.1:p.Cys66Ter
XM_017024110.1:c.-26_-25delinsAA XP_016879599.1:n.-26_-25delinsAA
NM_080669.6:c.197_198delinsAA MANE Select NP_542400.2:p.Cys66Ter
NM_001242366.3:c.197_198delinsAA NP_001229295.1:p.Cys66Ter
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