Canonical Allele Identifier: CA2574660678

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034535_104034554del , CM000672.2:g.104034535_104034554del	GRCh38
NC_000010.10:g.105794293_105794312del , CM000672.1:g.105794293_105794312del	GRCh37
NC_000010.9:g.105784283_105784302del	NCBI36
NG_007069.1:g.56331_56350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3520+71_3520+90del	ENSP00000358748.3:n.3520+71_3520+90del
ENST00000648076.2:c.3766+71_3766+90del MANE Select	ENSP00000497653.1:n.3766+71_3766+90del
ENST00000353479.9:c.3766+71_3766+90del	ENSP00000340937.5:n.3766+71_3766+90del
ENST00000369733.7:c.3520+71_3520+90del	ENSP00000358748.3:n.3520+71_3520+90del
NM_000494.3:c.3766+71_3766+90del	NP_000485.3:n.3766+71_3766+90del
NM_000494.4:c.3766+71_3766+90del MANE Select	NP_000485.3:n.3766+71_3766+90del