Canonical Allele Identifier: CA1933408580

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104057069_104057087delinsGGGGCACCAGGCTGGCGCT , CM000672.2:g.104057069_104057087delinsGGGGCACCAGGCTGGCGCT	GRCh38
NC_000010.10:g.105816827_105816845delinsGGGGCACCAGGCTGGCGCT , CM000672.1:g.105816827_105816845delinsGGGGCACCAGGCTGGCGCT	GRCh37
NC_000010.9:g.105806817_105806835delinsGGGGCACCAGGCTGGCGCT	NCBI36
NG_007069.1:g.33794_33812delinsAGCGCCAGCCTGGTGCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC	ENSP00000358748.3:p.Pro451=
ENST00000648076.2:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC MANE Select	ENSP00000497653.1:p.Pro451=
ENST00000650263.1:c.1305_1323delinsAGCGCCAGCCTGGTGCCCC	ENSP00000497850.1:p.Pro435=
ENST00000353479.9:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC	ENSP00000340937.5:p.Pro451=
ENST00000369733.7:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC	ENSP00000358748.3:p.Pro451=
NM_000494.3:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC	NP_000485.3:p.Pro451=
NM_000494.4:c.1353_1371delinsAGCGCCAGCCTGGTGCCCC MANE Select	NP_000485.3:p.Pro451=