Canonical Allele Identifier: CA1933418553

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034343_104034345delinsTGA , CM000672.2:g.104034343_104034345delinsTGA	GRCh38
NC_000010.10:g.105794101_105794103delinsTGA , CM000672.1:g.105794101_105794103delinsTGA	GRCh37
NC_000010.9:g.105784091_105784093delinsTGA	NCBI36
NG_007069.1:g.56536_56538delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-11_3521-9delinsTCA	ENSP00000358748.3:n.3521-11_3521-9delinsTCA
ENST00000648076.2:c.3767-11_3767-9delinsTCA MANE Select	ENSP00000497653.1:n.3767-11_3767-9delinsTCA
ENST00000353479.9:c.3767-11_3767-9delinsTCA	ENSP00000340937.5:n.3767-11_3767-9delinsTCA
ENST00000369733.7:c.3521-11_3521-9delinsTCA	ENSP00000358748.3:n.3521-11_3521-9delinsTCA
NM_000494.3:c.3767-11_3767-9delinsTCA	NP_000485.3:n.3767-11_3767-9delinsTCA
NM_000494.4:c.3767-11_3767-9delinsTCA MANE Select	NP_000485.3:n.3767-11_3767-9delinsTCA