Canonical Allele Identifier: CA2789321282

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037698_104037699insGTGTGTT , CM000672.2:g.104037698_104037699insGTGTGTT	GRCh38
NC_000010.10:g.105797456_105797457insGTGTGTT , CM000672.1:g.105797456_105797457insGTGTGTT	GRCh37
NC_000010.9:g.105787446_105787447insGTGTGTT	NCBI36
NG_007069.1:g.53182_53183insAACACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3010_3011insAACACAC	ENSP00000358748.3:p.Thr1004LysfsTer?
ENST00000648076.2:c.3145_3146insAACACAC MANE Select	ENSP00000497653.1:p.Thr1049LysfsTer?
ENST00000353479.9:c.3145_3146insAACACAC	ENSP00000340937.5:p.Thr1049LysfsTer?
ENST00000369733.7:c.3010_3011insAACACAC	ENSP00000358748.3:p.Thr1004LysfsTer?
NM_000494.3:c.3145_3146insAACACAC	NP_000485.3:p.Thr1049LysfsTer?
NM_000494.4:c.3145_3146insAACACAC MANE Select	NP_000485.3:p.Thr1049LysfsTer?