Canonical Allele Identifier: CA707371064
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1236552152
gnomAD v3: 14-60644892-AAATT-A
gnomAD v4: 14-60644892-AAATT-A
MyVariant Identifiers: chr14:g.61111611_61111614del (hg19) chr14:g.60644893_60644896del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644897_60644900del , CM000676.2:g.60644897_60644900del GRCh38
NC_000014.8:g.61111615_61111618del , CM000676.1:g.61111615_61111618del GRCh37
NC_000014.7:g.60181368_60181371del NCBI36
NG_008231.1:g.9542_9545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1387_*1390del MANE Select ENSP00000494686.1:n.*1387_*1390del
ENST00000247182.6:c.*1387_*1390del ENSP00000247182.5:n.*1387_*1390del
ENST00000554986.2:c.*1387_*1390del ENSP00000452700.2:n.*1387_*1390del
NM_005982.3:c.*1387_*1390del NP_005973.1:n.*1387_*1390del
XM_017021602.2:c.*1661_*1664del XP_016877091.1:n.*1661_*1664del
NM_005982.4:c.*1387_*1390del MANE Select NP_005973.1:n.*1387_*1390del
Search 100 bp 5'
Search 100 bp 3'