Canonical Allele Identifier: CA2610800886
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037895del , CM000672.2:g.104037895del GRCh38
NC_000010.10:g.105797653del , CM000672.1:g.105797653del GRCh37
NC_000010.9:g.105787643del NCBI36
NG_007069.1:g.52988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-120del ENSP00000358748.3:n.2936-120del
ENST00000648076.2:c.3071-120del MANE Select ENSP00000497653.1:n.3071-120del
ENST00000353479.9:c.3071-120del ENSP00000340937.5:n.3071-120del
ENST00000369733.7:c.2936-120del ENSP00000358748.3:n.2936-120del
NM_000494.3:c.3071-120del NP_000485.3:n.3071-120del
NM_000494.4:c.3071-120del MANE Select NP_000485.3:n.3071-120del