Canonical Allele Identifier: CA2610796725
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034697-ACCCGGGGGCCCTCGAGGC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034700_104034717del , CM000672.2:g.104034700_104034717del GRCh38
NC_000010.10:g.105794458_105794475del , CM000672.1:g.105794458_105794475del GRCh37
NC_000010.9:g.105784448_105784465del NCBI36
NG_007069.1:g.56166_56183del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3426_3443del ENSP00000358748.3:p.Pro1143_Gly1148del
ENST00000648076.2:c.3672_3689del MANE Select ENSP00000497653.1:p.Pro1225_Gly1230del
ENST00000353479.9:c.3672_3689del ENSP00000340937.5:p.Pro1225_Gly1230del
ENST00000369733.7:c.3426_3443del ENSP00000358748.3:p.Pro1143_Gly1148del
NM_000494.3:c.3672_3689del NP_000485.3:p.Pro1225_Gly1230del
NM_000494.4:c.3672_3689del MANE Select NP_000485.3:p.Pro1225_Gly1230del
Search 100 bp 5'
Search 100 bp 3'