Canonical Allele Identifier: CA1933420769

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037679_104037680delinsGA , CM000672.2:g.104037679_104037680delinsGA	GRCh38
NC_000010.10:g.105797437_105797438delinsGA , CM000672.1:g.105797437_105797438delinsGA	GRCh37
NC_000010.9:g.105787427_105787428delinsGA	NCBI36
NG_007069.1:g.53201_53202delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3029_3030delinsTC	ENSP00000358748.3:p.Phe1010=
ENST00000648076.2:c.3164_3165delinsTC MANE Select	ENSP00000497653.1:p.Phe1055=
ENST00000353479.9:c.3164_3165delinsTC	ENSP00000340937.5:p.Phe1055=
ENST00000369733.7:c.3029_3030delinsTC	ENSP00000358748.3:p.Phe1010=
NM_000494.3:c.3164_3165delinsTC	NP_000485.3:p.Phe1055=
NM_000494.4:c.3164_3165delinsTC MANE Select	NP_000485.3:p.Phe1055=