Canonical Allele Identifier: CA932070210
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v3: 10-104038231-TACACACACACACACACACACACACACACACAC-T
gnomAD v4: 10-104038231-TACACACACACACACACACACACACACACACAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038250_104038281del , CM000672.2:g.104038250_104038281del GRCh38
NC_000010.10:g.105798008_105798039del , CM000672.1:g.105798008_105798039del GRCh37
NC_000010.9:g.105787998_105788029del NCBI36
NG_007069.1:g.52618_52649del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2935+143_2935+174del ENSP00000358748.3:n.2935+143_2935+174del
ENST00000648076.2:c.3070+143_3070+174del MANE Select ENSP00000497653.1:n.3070+143_3070+174del
ENST00000353479.9:c.3070+143_3070+174del ENSP00000340937.5:n.3070+143_3070+174del
ENST00000369733.7:c.2935+143_2935+174del ENSP00000358748.3:n.2935+143_2935+174del
NM_000494.3:c.3070+143_3070+174del NP_000485.3:n.3070+143_3070+174del
NM_000494.4:c.3070+143_3070+174del MANE Select NP_000485.3:n.3070+143_3070+174del
Search 100 bp 5'
Search 100 bp 3'