Canonical Allele Identifier: CA1933418542
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086251535
gnomAD v4: 10-104034328-T-TCAGGAC
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034330_104034335dup , CM000672.2:g.104034330_104034335dup GRCh38
NC_000010.10:g.105794088_105794093dup , CM000672.1:g.105794088_105794093dup GRCh37
NC_000010.9:g.105784078_105784083dup NCBI36
NG_007069.1:g.56547_56552dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3521_3526dup
ENST00000648076.2:c.3767_3772dup
ENST00000353479.9:c.3767_3772dup
ENST00000369733.7:c.3521_3526dup
NM_000494.3:c.3767_3772dup
NM_000494.4:c.3767_3772dup
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