Canonical Allele Identifier: CA275989
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104043578_104043589del , CM000672.2:g.104043578_104043589del GRCh38
NC_000010.10:g.105803336_105803347del , CM000672.1:g.105803336_105803347del GRCh37
NC_000010.9:g.105793326_105793337del NCBI36
NG_007069.1:g.47294_47305del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2435-6_2440del
ENST00000648076.2:c.2435-6_2440del
ENST00000353479.9:c.2435-6_2440del
ENST00000369733.7:c.2435-6_2440del
NM_000494.3:c.2435-6_2440del
NM_000494.4:c.2435-6_2440del