Canonical Allele Identifier: CA2610796409
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034368dup , CM000672.2:g.104034368dup GRCh38
NC_000010.10:g.105794126dup , CM000672.1:g.105794126dup GRCh37
NC_000010.9:g.105784116dup NCBI36
NG_007069.1:g.56513dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3521-34dup ENSP00000358748.3:n.3521-34dup
ENST00000648076.2:c.3767-34dup MANE Select ENSP00000497653.1:n.3767-34dup
ENST00000353479.9:c.3767-34dup ENSP00000340937.5:n.3767-34dup
ENST00000369733.7:c.3521-34dup ENSP00000358748.3:n.3521-34dup
NM_000494.3:c.3767-34dup NP_000485.3:n.3767-34dup
NM_000494.4:c.3767-34dup MANE Select NP_000485.3:n.3767-34dup