Canonical Allele Identifier: CA2610797659
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104053080-T-TCCCATGGGGCCTTCTCGCCCTCTCTGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104053095_104053121dup , CM000672.2:g.104053095_104053121dup GRCh38
NC_000010.10:g.105812853_105812879dup , CM000672.1:g.105812853_105812879dup GRCh37
NC_000010.9:g.105802843_105802869dup NCBI36
NG_007069.1:g.37774_37800dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1863_1889dup ENSP00000358748.3:p.Gly630_Pro631insGlnAr...
ENST00000648076.2:c.1863_1889dup MANE Select ENSP00000497653.1:p.Gly630_Pro631insGlnAr...
ENST00000353479.9:c.1863_1889dup ENSP00000340937.5:p.Gly630_Pro631insGlnAr...
ENST00000369733.7:c.1863_1889dup ENSP00000358748.3:p.Gly630_Pro631insGlnAr...
NM_000494.3:c.1863_1889dup NP_000485.3:p.Gly630_Pro631insGlnArgGlyAr...
NM_000494.4:c.1863_1889dup MANE Select NP_000485.3:p.Gly630_Pro631insGlnArgGlyAr...
Search 100 bp 5'
Search 100 bp 3'