Canonical Allele Identifier: CA2546263780

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064492_104064493insC , CM000672.2:g.104064492_104064493insC	GRCh38
NC_000010.10:g.105824250_105824251insC , CM000672.1:g.105824250_105824251insC	GRCh37
NC_000010.9:g.105814240_105814241insC	NCBI36
NG_007069.1:g.26388_26389insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.711_712insG	ENSP00000358748.3:p.Met238AspfsTer?
ENST00000648076.2:c.711_712insG MANE Select	ENSP00000497653.1:p.Met238AspfsTer?
ENST00000649118.1:n.826_827insG
ENST00000650263.1:c.663_664insG	ENSP00000497850.1:p.Met222AspfsTer?
ENST00000353479.9:c.711_712insG	ENSP00000340937.5:p.Met238AspfsTer?
ENST00000369733.7:c.711_712insG	ENSP00000358748.3:p.Met238AspfsTer?
ENST00000393211.3:c.711_712insG	ENSP00000376905.3:p.Met238AspfsTer?
ENST00000488320.1:n.56_57insG
NM_000494.3:c.711_712insG	NP_000485.3:p.Met238AspfsTer?
NM_000494.4:c.711_712insG MANE Select	NP_000485.3:p.Met238AspfsTer?