Canonical Allele Identifier: CA2658869170
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942117-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942123del , CM000664.2:g.44942123del GRCh38
NC_000002.11:g.45169262del , CM000664.1:g.45169262del GRCh37
NC_000002.10:g.45022766del NCBI36
NG_016222.1:g.5226del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.19del MANE Select ENSP00000260653.3:p.Leu7Ter
ENST00000260653.4:c.19del ENSP00000260653.3:p.Leu7Ter
NM_005413.3:c.19del NP_005404.1:p.Leu7Ter
XM_011533042.1:c.19del XP_011531344.1:p.Leu7Ter
NM_005413.4:c.19del MANE Select NP_005404.1:p.Leu7Ter
Search 100 bp 5'
Search 100 bp 3'