Canonical Allele Identifier: CA2789320514

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034616_104034617insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT , CM000672.2:g.104034616_104034617insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT	GRCh38
NC_000010.10:g.105794374_105794375insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT , CM000672.1:g.105794374_105794375insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT	GRCh37
NC_000010.9:g.105784364_105784365insATTGTCACGGCAAGTGCATCGAAGTGAACAACGGTTTGGACGGCGACGGTCCGTTCT	NCBI36
NG_007069.1:g.56264_56265insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT	ENSP00000358748.3:n.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACC...
ENST00000648076.2:c.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT MANE Select	ENSP00000497653.1:n.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACC...
ENST00000353479.9:c.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT	ENSP00000340937.5:n.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACC...
ENST00000369733.7:c.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT	ENSP00000358748.3:n.3520+4_3520+5insAGAACGGACCGTCGCCGTCCAAACC...
NM_000494.3:c.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT	NP_000485.3:n.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTT...
NM_000494.4:c.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTTCACTTCGATGCACTTGCCGTGACAAT MANE Select	NP_000485.3:n.3766+4_3766+5insAGAACGGACCGTCGCCGTCCAAACCGTTGTT...