Canonical Allele Identifier: CA1933389713

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038041_104038042delinsCA , CM000672.2:g.104038041_104038042delinsCA	GRCh38
NC_000010.10:g.105797799_105797800delinsCA , CM000672.1:g.105797799_105797800delinsCA	GRCh37
NC_000010.9:g.105787789_105787790delinsCA	NCBI36
NG_007069.1:g.52839_52840delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-269_2936-268delinsTG	ENSP00000358748.3:n.2936-269_2936-268delinsTG
ENST00000648076.2:c.3071-269_3071-268delinsTG MANE Select	ENSP00000497653.1:n.3071-269_3071-268delinsTG
ENST00000353479.9:c.3071-269_3071-268delinsTG	ENSP00000340937.5:n.3071-269_3071-268delinsTG
ENST00000369733.7:c.2936-269_2936-268delinsTG	ENSP00000358748.3:n.2936-269_2936-268delinsTG
NM_000494.3:c.3071-269_3071-268delinsTG	NP_000485.3:n.3071-269_3071-268delinsTG
NM_000494.4:c.3071-269_3071-268delinsTG MANE Select	NP_000485.3:n.3071-269_3071-268delinsTG