Canonical Allele Identifier: CA2036520038
Gene: KRT6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487860_52487920delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC , CM000674.2:g.52487860_52487920delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC GRCh38
NC_000012.11:g.52881644_52881704delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC , CM000674.1:g.52881644_52881704delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC GRCh37
NC_000012.10:g.51167911_51167971delinsTGCCATAGGAGTAGCTGCTTCCTCCACCCAGGCCTAAGCCACTGCCGACACCACTGGCACC NCBI36
NG_008298.1:g.10478_10538delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA MANE Select ENSP00000369317.3:p.Gly499=
ENST00000330722.6:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA ENSP00000369317.3:p.Gly499=
NM_005554.3:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA NP_005545.1:p.Gly499=
NM_005554.4:c.1495_1555delinsGGTGCCAGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCA MANE Select NP_005545.1:p.Gly499=
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