Canonical Allele Identifier: CA2574666734

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064419_104064425del , CM000672.2:g.104064419_104064425del	GRCh38
NC_000010.10:g.105824177_105824183del , CM000672.1:g.105824177_105824183del	GRCh37
NC_000010.9:g.105814167_105814173del	NCBI36
NG_007069.1:g.26458_26464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.766+15_766+21del	ENSP00000358748.3:n.766+15_766+21del
ENST00000648076.2:c.766+15_766+21del MANE Select	ENSP00000497653.1:n.766+15_766+21del
ENST00000649118.1:n.881+15_881+21del
ENST00000650263.1:c.718+15_718+21del	ENSP00000497850.1:n.718+15_718+21del
ENST00000353479.9:c.766+15_766+21del	ENSP00000340937.5:n.766+15_766+21del
ENST00000369733.7:c.766+15_766+21del	ENSP00000358748.3:n.766+15_766+21del
ENST00000393211.3:c.766+15_766+21del	ENSP00000376905.3:n.766+15_766+21del
ENST00000488320.1:n.111+15_111+21del
NM_000494.3:c.766+15_766+21del	NP_000485.3:n.766+15_766+21del
NM_000494.4:c.766+15_766+21del MANE Select	NP_000485.3:n.766+15_766+21del