Canonical Allele Identifier: CA2610800885
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104057022-AGCAGCAGGCCCAGCAGCCACTTCCACCAGCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057031_104057061del , CM000672.2:g.104057031_104057061del GRCh38
NC_000010.10:g.105816789_105816819del , CM000672.1:g.105816789_105816819del GRCh37
NC_000010.9:g.105806779_105806809del NCBI36
NG_007069.1:g.33828_33858del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1387_1417del ENSP00000358748.3:p.Trp464ProfsTer19
ENST00000648076.2:c.1387_1417del MANE Select ENSP00000497653.1:p.Trp464ProfsTer19
ENST00000650263.1:c.1339_1369del ENSP00000497850.1:p.Trp448ProfsTer19
ENST00000353479.9:c.1387_1417del ENSP00000340937.5:p.Trp464ProfsTer19
ENST00000369733.7:c.1387_1417del ENSP00000358748.3:p.Trp464ProfsTer19
NM_000494.3:c.1387_1417del NP_000485.3:p.Trp464ProfsTer19
NM_000494.4:c.1387_1417del MANE Select NP_000485.3:p.Trp464ProfsTer19
Search 100 bp 5'
Search 100 bp 3'