Canonical Allele Identifier: CA932070226
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs59808906
gnomAD v3: 10-104038231-T-TACACACACACACACACAC
gnomAD v4: 10-104038231-T-TACACACACACACACACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038264_104038281dup , CM000672.2:g.104038264_104038281dup GRCh38
NC_000010.10:g.105798022_105798039dup , CM000672.1:g.105798022_105798039dup GRCh37
NC_000010.9:g.105788012_105788029dup NCBI36
NG_007069.1:g.52632_52649dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2935+157_2935+174dup ENSP00000358748.3:n.2935+157_2935+174dup
ENST00000648076.2:c.3070+157_3070+174dup MANE Select ENSP00000497653.1:n.3070+157_3070+174dup
ENST00000353479.9:c.3070+157_3070+174dup ENSP00000340937.5:n.3070+157_3070+174dup
ENST00000369733.7:c.2935+157_2935+174dup ENSP00000358748.3:n.2935+157_2935+174dup
NM_000494.3:c.3070+157_3070+174dup NP_000485.3:n.3070+157_3070+174dup
NM_000494.4:c.3070+157_3070+174dup MANE Select NP_000485.3:n.3070+157_3070+174dup
Search 100 bp 5'
Search 100 bp 3'