Canonical Allele Identifier: CA1933420750

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037630_104037631delinsGC , CM000672.2:g.104037630_104037631delinsGC	GRCh38
NC_000010.10:g.105797388_105797389delinsGC , CM000672.1:g.105797388_105797389delinsGC	GRCh37
NC_000010.9:g.105787378_105787379delinsGC	NCBI36
NG_007069.1:g.53250_53251delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3073+5_3073+6delinsGC	ENSP00000358748.3:n.3073+5_3073+6delinsGC
ENST00000648076.2:c.3208+5_3208+6delinsGC MANE Select	ENSP00000497653.1:n.3208+5_3208+6delinsGC
ENST00000353479.9:c.3208+5_3208+6delinsGC	ENSP00000340937.5:n.3208+5_3208+6delinsGC
ENST00000369733.7:c.3073+5_3073+6delinsGC	ENSP00000358748.3:n.3073+5_3073+6delinsGC
NM_000494.3:c.3208+5_3208+6delinsGC	NP_000485.3:n.3208+5_3208+6delinsGC
NM_000494.4:c.3208+5_3208+6delinsGC MANE Select	NP_000485.3:n.3208+5_3208+6delinsGC