Canonical Allele Identifier: CA707371198
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1396242161
MyVariant Identifiers: chr14:g.61112158_61112159insA (hg19) chr14:g.60645440_60645441insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645443dup , CM000676.2:g.60645443dup GRCh38
NC_000014.8:g.61112161dup , CM000676.1:g.61112161dup GRCh37
NC_000014.7:g.60181914dup NCBI36
NG_008231.1:g.8997dup

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.*842dup MANE Select ENSP00000494686.1:n.*842dup
ENST00000247182.6:c.*842dup ENSP00000247182.5:n.*842dup
ENST00000553535.2:n.1385dup
ENST00000554986.2:c.*842dup ENSP00000452700.2:n.*842dup
ENST00000555955.3:n.2334dup
NM_005982.3:c.*842dup NP_005973.1:n.*842dup
XM_017021602.2:c.*1116dup XP_016877091.1:n.*1116dup
NM_005982.4:c.*842dup MANE Select NP_005973.1:n.*842dup
Search 100 bp 5'
Search 100 bp 3'