Canonical Allele Identifier: CA2610801480
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104050550-T-TGAGGGTCCCATC
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104050551_104050562dup , CM000672.2:g.104050551_104050562dup GRCh38
NC_000010.10:g.105810309_105810320dup , CM000672.1:g.105810309_105810320dup GRCh37
NC_000010.9:g.105800299_105800310dup NCBI36
NG_007069.1:g.40319_40330dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2128+59_2128+70dup ENSP00000358748.3:n.2128+59_2128+70dup
ENST00000648076.2:c.2128+59_2128+70dup MANE Select ENSP00000497653.1:n.2128+59_2128+70dup
ENST00000353479.9:c.2128+59_2128+70dup ENSP00000340937.5:n.2128+59_2128+70dup
ENST00000369733.7:c.2128+59_2128+70dup ENSP00000358748.3:n.2128+59_2128+70dup
NM_000494.3:c.2128+59_2128+70dup NP_000485.3:n.2128+59_2128+70dup
NM_000494.4:c.2128+59_2128+70dup MANE Select NP_000485.3:n.2128+59_2128+70dup
Search 100 bp 5'
Search 100 bp 3'