Canonical Allele Identifier: CA1933389626

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037865_104037866delinsGC , CM000672.2:g.104037865_104037866delinsGC	GRCh38
NC_000010.10:g.105797623_105797624delinsGC , CM000672.1:g.105797623_105797624delinsGC	GRCh37
NC_000010.9:g.105787613_105787614delinsGC	NCBI36
NG_007069.1:g.53015_53016delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-93_2936-92delinsGC	ENSP00000358748.3:n.2936-93_2936-92delinsGC
ENST00000648076.2:c.3071-93_3071-92delinsGC MANE Select	ENSP00000497653.1:n.3071-93_3071-92delinsGC
ENST00000353479.9:c.3071-93_3071-92delinsGC	ENSP00000340937.5:n.3071-93_3071-92delinsGC
ENST00000369733.7:c.2936-93_2936-92delinsGC	ENSP00000358748.3:n.2936-93_2936-92delinsGC
NM_000494.3:c.3071-93_3071-92delinsGC	NP_000485.3:n.3071-93_3071-92delinsGC
NM_000494.4:c.3071-93_3071-92delinsGC MANE Select	NP_000485.3:n.3071-93_3071-92delinsGC