Canonical Allele Identifier: CA1933402971
Gene: COL17A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053080_104053107delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG , CM000672.2:g.104053080_104053107delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG GRCh38
NC_000010.10:g.105812838_105812865delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG , CM000672.1:g.105812838_105812865delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG GRCh37
NC_000010.9:g.105802828_105802855delinsTCCCATGGGGCCTTCTCGCCCTCTCTGG NCBI36
NG_007069.1:g.37774_37801delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA ENSP00000358748.3:p.Gly621=
ENST00000648076.2:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA MANE Select ENSP00000497653.1:p.Gly621=
ENST00000353479.9:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA ENSP00000340937.5:p.Gly621=
ENST00000369733.7:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA ENSP00000358748.3:p.Gly621=
NM_000494.3:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA NP_000485.3:p.Gly621=
NM_000494.4:c.1863_1890delinsCCAGAGAGGGCGAGAAGGCCCCATGGGA MANE Select NP_000485.3:p.Gly621=
Search 100 bp 5'
Search 100 bp 3'