Canonical Allele Identifier: CA1933389605

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037837_104037846delinsGTGACCTGAA , CM000672.2:g.104037837_104037846delinsGTGACCTGAA	GRCh38
NC_000010.10:g.105797595_105797604delinsGTGACCTGAA , CM000672.1:g.105797595_105797604delinsGTGACCTGAA	GRCh37
NC_000010.9:g.105787585_105787594delinsGTGACCTGAA	NCBI36
NG_007069.1:g.53035_53044delinsTTCAGGTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-73_2936-64delinsTTCAGGTCAC	ENSP00000358748.3:n.2936-73_2936-64delinsTTCAGGTCAC
ENST00000648076.2:c.3071-73_3071-64delinsTTCAGGTCAC MANE Select	ENSP00000497653.1:n.3071-73_3071-64delinsTTCAGGTCAC
ENST00000353479.9:c.3071-73_3071-64delinsTTCAGGTCAC	ENSP00000340937.5:n.3071-73_3071-64delinsTTCAGGTCAC
ENST00000369733.7:c.2936-73_2936-64delinsTTCAGGTCAC	ENSP00000358748.3:n.2936-73_2936-64delinsTTCAGGTCAC
NM_000494.3:c.3071-73_3071-64delinsTTCAGGTCAC	NP_000485.3:n.3071-73_3071-64delinsTTCAGGTCAC
NM_000494.4:c.3071-73_3071-64delinsTTCAGGTCAC MANE Select	NP_000485.3:n.3071-73_3071-64delinsTTCAGGTCAC