Canonical Allele Identifier: CA2610796531
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034526-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034528del , CM000672.2:g.104034528del GRCh38
NC_000010.10:g.105794286del , CM000672.1:g.105794286del GRCh37
NC_000010.9:g.105784276del NCBI36
NG_007069.1:g.56354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3520+94del ENSP00000358748.3:n.3520+94del
ENST00000648076.2:c.3766+94del MANE Select ENSP00000497653.1:n.3766+94del
ENST00000353479.9:c.3766+94del ENSP00000340937.5:n.3766+94del
ENST00000369733.7:c.3520+94del ENSP00000358748.3:n.3520+94del
NM_000494.3:c.3766+94del NP_000485.3:n.3766+94del
NM_000494.4:c.3766+94del MANE Select NP_000485.3:n.3766+94del
Search 100 bp 5'
Search 100 bp 3'