Canonical Allele Identifier: CA2788034648

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809016_53809017insAGTA , CM000672.2:g.53809016_53809017insAGTA	GRCh38
NC_000010.10:g.55568776_55568777insAGTA , CM000672.1:g.55568776_55568777insAGTA	GRCh37
NC_000010.9:g.55238782_55238783insAGTA	NCBI36
NG_009191.2:g.997275_997276insTACT
NG_009191.3:g.1825166_1825167insTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5048_5049insTACT	ENSP00000482794.1:p.Lys1683AsnfsTer13
ENST00000395445.6:c.5027_5028insTACT	ENSP00000378832.2:p.Lys1676AsnfsTer13
ENST00000613657.5:c.5048_5049insTACT	ENSP00000482794.1:p.Lys1683AsnfsTer13
ENST00000642496.1:c.3530+1539_3530+1540insTACT
ENST00000644397.2:c.4671+1539_4671+1540insTACT MANE Select	ENSP00000495195.1:n.4671+1539_4671+1540insTACT
ENST00000373965.6:c.4482+1539_4482+1540insTACT	ENSP00000363076.3:n.4482+1539_4482+1540insTACT
ENST00000395438.5:c.*463_*464insTACT	ENSP00000378826.2:n.*463_*464insTACT
ENST00000395440.5:c.1835_1836insTACT	ENSP00000378827.1:p.Lys612AsnfsTer13
ENST00000395442.5:c.1628_1629insTACT	ENSP00000378829.1:p.Lys543AsnfsTer13
ENST00000395445.5:c.5027_5028insTACT	ENSP00000378832.2:p.Lys1676AsnfsTer13
ENST00000395446.5:c.2621_2622insTACT	ENSP00000378833.1:p.Lys874AsnfsTer13
ENST00000409834.5:c.*463_*464insTACT	ENSP00000386693.1:n.*463_*464insTACT
ENST00000414367.5:c.*1086_*1087insTACT	ENSP00000412531.1:n.*1086_*1087insTACT
ENST00000414778.5:c.4479+1539_4479+1540insTACT	ENSP00000410304.2:n.4479+1539_4479+1540insTACT
ENST00000476074.5:n.609+1539_609+1540insTACT
ENST00000495484.5:c.699+1539_699+1540insTACT	ENSP00000480780.1:n.699+1539_699+1540insTACT
ENST00000612394.4:c.5045_5046insTACT	ENSP00000482921.1:p.Lys1682AsnfsTer13
ENST00000613657.4:c.5048_5049insTACT	ENSP00000482794.1:p.Lys1683AsnfsTer13
ENST00000614895.4:c.4494+1539_4494+1540insTACT	ENSP00000478512.1:n.4494+1539_4494+1540insTACT
ENST00000615043.1:c.648_649insTACT
ENST00000616114.4:c.4476+1539_4476+1540insTACT	ENSP00000483745.1:n.4476+1539_4476+1540insTACT
ENST00000617271.4:c.*463_*464insTACT	ENSP00000478076.1:n.*463_*464insTACT
ENST00000618301.4:c.831+1539_831+1540insTACT	ENSP00000482780.1:n.831+1539_831+1540insTACT
ENST00000621708.4:c.4497+1539_4497+1540insTACT	ENSP00000484454.1:n.4497+1539_4497+1540insTACT
NM_001142769.1:c.5048_5049insTACT	NP_001136241.1:p.Lys1683AsnfsTer13
NM_001142770.1:c.*463_*464insTACT	NP_001136242.1:n.*463_*464insTACT
NM_001142771.1:c.4497+1539_4497+1540insTACT	NP_001136243.1:n.4497+1539_4497+1540insTACT
NM_001142772.1:c.4482+1539_4482+1540insTACT	NP_001136244.1:n.4482+1539_4482+1540insTACT
NM_001142769.2:c.5048_5049insTACT	NP_001136241.1:p.Lys1683AsnfsTer13
NM_001142770.2:c.*463_*464insTACT	NP_001136242.1:n.*463_*464insTACT
NM_001354411.1:c.5027_5028insTACT	NP_001341340.1:p.Lys1676AsnfsTer13
NM_001354420.1:c.4476+1539_4476+1540insTACT	NP_001341349.1:n.4476+1539_4476+1540insTACT
NM_001354429.1:c.4605+1539_4605+1540insTACT	NP_001341358.1:n.4605+1539_4605+1540insTACT
XM_017016573.2:c.5027_5028insTACT	XP_016872062.1:p.Lys1676AsnfsTer13
XR_001747192.2:n.10963+1539_10963+1540insTACT
XR_001747193.2:n.10954+1539_10954+1540insTACT
NM_001142769.3:c.5048_5049insTACT	NP_001136241.1:p.Lys1683AsnfsTer13
NM_001142770.3:c.*463_*464insTACT	NP_001136242.1:n.*463_*464insTACT
NM_001142771.2:c.4497+1539_4497+1540insTACT	NP_001136243.1:n.4497+1539_4497+1540insTACT
NM_001142772.2:c.4482+1539_4482+1540insTACT	NP_001136244.1:n.4482+1539_4482+1540insTACT
NM_001354411.2:c.5027_5028insTACT	NP_001341340.1:p.Lys1676AsnfsTer13
NM_001354420.2:c.4476+1539_4476+1540insTACT	NP_001341349.1:n.4476+1539_4476+1540insTACT
NM_001354429.2:c.4605+1539_4605+1540insTACT	NP_001341358.1:n.4605+1539_4605+1540insTACT
NM_001384140.1:c.4671+1539_4671+1540insTACT MANE Select	NP_001371069.1:n.4671+1539_4671+1540insTACT