Canonical Allele Identifier: CA2610800410
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104037666-GCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037669_104037670del , CM000672.2:g.104037669_104037670del GRCh38
NC_000010.10:g.105797427_105797428del , CM000672.1:g.105797427_105797428del GRCh37
NC_000010.9:g.105787417_105787418del NCBI36
NG_007069.1:g.53213_53214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3041_3042del ENSP00000358748.3:p.Glu1014AlafsTer26
ENST00000648076.2:c.3176_3177del MANE Select ENSP00000497653.1:p.Glu1059AlafsTer26
ENST00000353479.9:c.3176_3177del ENSP00000340937.5:p.Glu1059AlafsTer26
ENST00000369733.7:c.3041_3042del ENSP00000358748.3:p.Glu1014AlafsTer26
NM_000494.3:c.3176_3177del NP_000485.3:p.Glu1059AlafsTer26
NM_000494.4:c.3176_3177del MANE Select NP_000485.3:p.Glu1059AlafsTer26
Search 100 bp 5'
Search 100 bp 3'