Canonical Allele Identifier: CA2670372698
Gene: KLB HGNC NCBI

Linked Data

gnomAD v4: 4-39446923-T-TTTTTTAATGA
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39446923_39446924insTTTTTAATGA , CM000666.2:g.39446923_39446924insTTTTTAATGA GRCh38
NC_000004.11:g.39448543_39448544insTTTTTAATGA , CM000666.1:g.39448543_39448544insTTTTTAATGA GRCh37
NC_000004.10:g.39124938_39124939insTTTTTAATGA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257408.5:c.2197_2198insTTTTTAATGA MANE Select ENSP00000257408.4:p.Ser733PhefsTer26
ENST00000257408.4:c.2197_2198insTTTTTAATGA ENSP00000257408.4:p.Ser733PhefsTer26
NM_175737.3:c.2197_2198insTTTTTAATGA NP_783864.1:p.Ser733PhefsTer26
XM_005262644.1:c.2170_2171insTTTTTAATGA XP_005262701.1:p.Ser724PhefsTer26
NM_175737.4:c.2197_2198insTTTTTAATGA MANE Select NP_783864.1:p.Ser733PhefsTer26
Search 100 bp 5'
Search 100 bp 3'