Canonical Allele Identifier: CA1933418575

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034378_104034382delinsGGAGA , CM000672.2:g.104034378_104034382delinsGGAGA	GRCh38
NC_000010.10:g.105794136_105794140delinsGGAGA , CM000672.1:g.105794136_105794140delinsGGAGA	GRCh37
NC_000010.9:g.105784126_105784130delinsGGAGA	NCBI36
NG_007069.1:g.56499_56503delinsTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-48_3521-44delinsTCTCC	ENSP00000358748.3:n.3521-48_3521-44delinsTCTCC
ENST00000648076.2:c.3767-48_3767-44delinsTCTCC MANE Select	ENSP00000497653.1:n.3767-48_3767-44delinsTCTCC
ENST00000353479.9:c.3767-48_3767-44delinsTCTCC	ENSP00000340937.5:n.3767-48_3767-44delinsTCTCC
ENST00000369733.7:c.3521-48_3521-44delinsTCTCC	ENSP00000358748.3:n.3521-48_3521-44delinsTCTCC
NM_000494.3:c.3767-48_3767-44delinsTCTCC	NP_000485.3:n.3767-48_3767-44delinsTCTCC
NM_000494.4:c.3767-48_3767-44delinsTCTCC MANE Select	NP_000485.3:n.3767-48_3767-44delinsTCTCC