Canonical Allele Identifier: CA2529145027

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034081_104034082insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC , CM000672.2:g.104034081_104034082insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC	GRCh38
NC_000010.10:g.105793839_105793840insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC , CM000672.1:g.105793839_105793840insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC	GRCh37
NC_000010.9:g.105783829_105783830insCTTTGTCGTTCGCTGATGGCACTGAGTTTGACAGCGCCTGTTTGCGCGTTCATCGCCAAATC	NCBI36
NG_007069.1:g.56799_56800insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3773_3774insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG	ENSP00000358748.3:p.Asp1258GlufsTer5
ENST00000647647.1:c.49_50insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG
ENST00000648076.2:c.4019_4020insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG MANE Select	ENSP00000497653.1:p.Asp1340GlufsTer5
ENST00000353479.9:c.4019_4020insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG	ENSP00000340937.5:p.Asp1340GlufsTer5
ENST00000369733.7:c.3773_3774insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG	ENSP00000358748.3:p.Asp1258GlufsTer5
NM_000494.3:c.4019_4020insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG	NP_000485.3:p.Asp1340GlufsTer5
NM_000494.4:c.4019_4020insGATTTGGCGATGAACGCGCAAACAGGCGCTGTCAAACTCAGTGCCATCAGCGAACGACAAAG MANE Select	NP_000485.3:p.Asp1340GlufsTer5