Canonical Allele Identifier: CA1933418556
Gene: COL17A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034348_104034351delinsAGCT , CM000672.2:g.104034348_104034351delinsAGCT GRCh38
NC_000010.10:g.105794106_105794109delinsAGCT , CM000672.1:g.105794106_105794109delinsAGCT GRCh37
NC_000010.9:g.105784096_105784099delinsAGCT NCBI36
NG_007069.1:g.56530_56533delinsAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3521-17_3521-14delinsAGCT ENSP00000358748.3:n.3521-17_3521-14delinsAGCT
ENST00000648076.2:c.3767-17_3767-14delinsAGCT MANE Select ENSP00000497653.1:n.3767-17_3767-14delinsAGCT
ENST00000353479.9:c.3767-17_3767-14delinsAGCT ENSP00000340937.5:n.3767-17_3767-14delinsAGCT
ENST00000369733.7:c.3521-17_3521-14delinsAGCT ENSP00000358748.3:n.3521-17_3521-14delinsAGCT
NM_000494.3:c.3767-17_3767-14delinsAGCT NP_000485.3:n.3767-17_3767-14delinsAGCT
NM_000494.4:c.3767-17_3767-14delinsAGCT MANE Select NP_000485.3:n.3767-17_3767-14delinsAGCT