Canonical Allele Identifier: CA1933420775

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037688_104037691delinsGCCT , CM000672.2:g.104037688_104037691delinsGCCT	GRCh38
NC_000010.10:g.105797446_105797449delinsGCCT , CM000672.1:g.105797446_105797449delinsGCCT	GRCh37
NC_000010.9:g.105787436_105787439delinsGCCT	NCBI36
NG_007069.1:g.53190_53193delinsAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3018_3021delinsAGGC	ENSP00000358748.3:p.Thr1006=
ENST00000648076.2:c.3153_3156delinsAGGC MANE Select	ENSP00000497653.1:p.Thr1051=
ENST00000353479.9:c.3153_3156delinsAGGC	ENSP00000340937.5:p.Thr1051=
ENST00000369733.7:c.3018_3021delinsAGGC	ENSP00000358748.3:p.Thr1006=
NM_000494.3:c.3153_3156delinsAGGC	NP_000485.3:p.Thr1051=
NM_000494.4:c.3153_3156delinsAGGC MANE Select	NP_000485.3:p.Thr1051=