Canonical Allele Identifier: CA1910762383

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53809036_53809045delinsTGACCTCCTC , CM000672.2:g.53809036_53809045delinsTGACCTCCTC	GRCh38
NC_000010.10:g.55568796_55568805delinsTGACCTCCTC , CM000672.1:g.55568796_55568805delinsTGACCTCCTC	GRCh37
NC_000010.9:g.55238802_55238811delinsTGACCTCCTC	NCBI36
NG_009191.2:g.997247_997256delinsGAGGAGGTCA
NG_009191.3:g.1825138_1825147delinsGAGGAGGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613657.6:c.5020_5029delinsGAGGAGGTCA	ENSP00000482794.1:p.Glu1674=
ENST00000395445.6:c.4999_5008delinsGAGGAGGTCA	ENSP00000378832.2:p.Glu1667=
ENST00000613657.5:c.5020_5029delinsGAGGAGGTCA	ENSP00000482794.1:p.Glu1674=
ENST00000642496.1:c.3530+1511_3530+1520delinsGAGGAGGTCA
ENST00000644397.2:c.4671+1511_4671+1520delinsGAGGAGGTCA MANE Select	ENSP00000495195.1:n.4671+1511_4671+1520delinsGAGGAGGTCA
ENST00000373965.6:c.4482+1511_4482+1520delinsGAGGAGGTCA	ENSP00000363076.3:n.4482+1511_4482+1520delinsGAGGAGGTCA
ENST00000395438.5:c.*435_*444delinsGAGGAGGTCA	ENSP00000378826.2:n.*435_*444delinsGAGGAGGTCA
ENST00000395440.5:c.1807_1816delinsGAGGAGGTCA	ENSP00000378827.1:p.Glu603=
ENST00000395442.5:c.1600_1609delinsGAGGAGGTCA	ENSP00000378829.1:p.Glu534=
ENST00000395445.5:c.4999_5008delinsGAGGAGGTCA	ENSP00000378832.2:p.Glu1667=
ENST00000395446.5:c.2593_2602delinsGAGGAGGTCA	ENSP00000378833.1:p.Glu865=
ENST00000409834.5:c.*435_*444delinsGAGGAGGTCA	ENSP00000386693.1:n.*435_*444delinsGAGGAGGTCA
ENST00000414367.5:c.*1058_*1067delinsGAGGAGGTCA	ENSP00000412531.1:n.*1058_*1067delinsGAGGAGGTCA
ENST00000414778.5:c.4479+1511_4479+1520delinsGAGGAGGTCA	ENSP00000410304.2:n.4479+1511_4479+1520delinsGAGGAGGTCA
ENST00000476074.5:n.609+1511_609+1520delinsGAGGAGGTCA
ENST00000495484.5:c.699+1511_699+1520delinsGAGGAGGTCA	ENSP00000480780.1:n.699+1511_699+1520delinsGAGGAGGTCA
ENST00000612394.4:c.5017_5026delinsGAGGAGGTCA	ENSP00000482921.1:p.Glu1673=
ENST00000613657.4:c.5020_5029delinsGAGGAGGTCA	ENSP00000482794.1:p.Glu1674=
ENST00000614895.4:c.4494+1511_4494+1520delinsGAGGAGGTCA	ENSP00000478512.1:n.4494+1511_4494+1520delinsGAGGAGGTCA
ENST00000615043.1:c.620_629delinsGAGGAGGTCA
ENST00000616114.4:c.4476+1511_4476+1520delinsGAGGAGGTCA	ENSP00000483745.1:n.4476+1511_4476+1520delinsGAGGAGGTCA
ENST00000617271.4:c.*435_*444delinsGAGGAGGTCA	ENSP00000478076.1:n.*435_*444delinsGAGGAGGTCA
ENST00000618301.4:c.831+1511_831+1520delinsGAGGAGGTCA	ENSP00000482780.1:n.831+1511_831+1520delinsGAGGAGGTCA
ENST00000621708.4:c.4497+1511_4497+1520delinsGAGGAGGTCA	ENSP00000484454.1:n.4497+1511_4497+1520delinsGAGGAGGTCA
NM_001142769.1:c.5020_5029delinsGAGGAGGTCA	NP_001136241.1:p.Glu1674=
NM_001142770.1:c.*435_*444delinsGAGGAGGTCA	NP_001136242.1:n.*435_*444delinsGAGGAGGTCA
NM_001142771.1:c.4497+1511_4497+1520delinsGAGGAGGTCA	NP_001136243.1:n.4497+1511_4497+1520delinsGAGGAGGTCA
NM_001142772.1:c.4482+1511_4482+1520delinsGAGGAGGTCA	NP_001136244.1:n.4482+1511_4482+1520delinsGAGGAGGTCA
NM_001142769.2:c.5020_5029delinsGAGGAGGTCA	NP_001136241.1:p.Glu1674=
NM_001142770.2:c.*435_*444delinsGAGGAGGTCA	NP_001136242.1:n.*435_*444delinsGAGGAGGTCA
NM_001354411.1:c.4999_5008delinsGAGGAGGTCA	NP_001341340.1:p.Glu1667=
NM_001354420.1:c.4476+1511_4476+1520delinsGAGGAGGTCA	NP_001341349.1:n.4476+1511_4476+1520delinsGAGGAGGTCA
NM_001354429.1:c.4605+1511_4605+1520delinsGAGGAGGTCA	NP_001341358.1:n.4605+1511_4605+1520delinsGAGGAGGTCA
XM_017016573.2:c.4999_5008delinsGAGGAGGTCA	XP_016872062.1:p.Glu1667=
XR_001747192.2:n.10963+1511_10963+1520delinsGAGGAGGTCA
XR_001747193.2:n.10954+1511_10954+1520delinsGAGGAGGTCA
NM_001142769.3:c.5020_5029delinsGAGGAGGTCA	NP_001136241.1:p.Glu1674=
NM_001142770.3:c.*435_*444delinsGAGGAGGTCA	NP_001136242.1:n.*435_*444delinsGAGGAGGTCA
NM_001142771.2:c.4497+1511_4497+1520delinsGAGGAGGTCA	NP_001136243.1:n.4497+1511_4497+1520delinsGAGGAGGTCA
NM_001142772.2:c.4482+1511_4482+1520delinsGAGGAGGTCA	NP_001136244.1:n.4482+1511_4482+1520delinsGAGGAGGTCA
NM_001354411.2:c.4999_5008delinsGAGGAGGTCA	NP_001341340.1:p.Glu1667=
NM_001354420.2:c.4476+1511_4476+1520delinsGAGGAGGTCA	NP_001341349.1:n.4476+1511_4476+1520delinsGAGGAGGTCA
NM_001354429.2:c.4605+1511_4605+1520delinsGAGGAGGTCA	NP_001341358.1:n.4605+1511_4605+1520delinsGAGGAGGTCA
NM_001384140.1:c.4671+1511_4671+1520delinsGAGGAGGTCA MANE Select	NP_001371069.1:n.4671+1511_4671+1520delinsGAGGAGGTCA