Canonical Allele Identifier: CA2814341109
Community Standard Title: NM_004823.3(KCNK6):c.912_913insAACACACCCAA (p.His305AsnfsTer29)
Gene: KCNK6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38327373_38327374insAACACACCCAA , CM000681.2:g.38327373_38327374insAACACACCCAA GRCh38
NC_000019.9:g.38818013_38818014insAACACACCCAA , CM000681.1:g.38818013_38818014insAACACACCCAA GRCh37
NC_000019.8:g.43509853_43509854insAACACACCCAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004823.3:c.912_913insAACACACCCAA MANE Select NP_004814.1:p.His305AsnfsTer29
ENST00000263372.5:c.912_913insAACACACCCAA MANE Select ENSP00000263372.2:p.His305AsnfsTer29
NM_004823.1:c.912_913insAACACACCCAA NP_004814.1:p.His305AsnfsTer29
NM_004823.2:c.912_913insAACACACCCAA NP_004814.1:p.His305AsnfsTer29
ENST00000263372.4:c.912_913insAACACACCCAA ENSP00000263372.2:p.His305AsnfsTer29
XM_011527526.1:c.510_511insAACACACCCAA XP_011525828.1:p.His171AsnfsTer29
XM_024451788.1:c.510_511insAACACACCCAA XP_024307556.1:p.His171AsnfsTer29