Canonical Allele Identifier: CA2549662020

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406895_100406896insTTAAAA , CM000685.2:g.100406895_100406896insTTAAAA	GRCh38
NC_000023.10:g.99661893_99661894insTTAAAA , CM000685.1:g.99661893_99661894insTTAAAA	GRCh37
NC_000023.9:g.99548549_99548550insTTAAAA	NCBI36
NG_021319.1:g.8379_8380insTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1703_1704insTTTAAT	ENSP00000255531.7:p.Leu568_Ile569insLeuMet
ENST00000373034.8:c.1703_1704insTTTAAT MANE Select	ENSP00000362125.4:p.Leu568_Ile569insLeuMet
ENST00000420881.6:c.1703_1704insTTTAAT	ENSP00000400327.2:p.Leu568_Ile569insLeuMet
NM_001105243.1:c.1703_1704insTTTAAT	NP_001098713.1:p.Leu568_Ile569insLeuMet
NM_001184880.1:c.1703_1704insTTTAAT	NP_001171809.1:p.Leu568_Ile569insLeuMet
NM_020766.2:c.1703_1704insTTTAAT	NP_065817.2:p.Leu568_Ile569insLeuMet
XM_011530997.1:c.1703_1704insTTTAAT	XP_011529299.1:p.Leu568_Ile569insLeuMet
XM_011530997.2:c.1703_1704insTTTAAT	XP_011529299.1:p.Leu568_Ile569insLeuMet
NM_001105243.2:c.1703_1704insTTTAAT	NP_001098713.1:p.Leu568_Ile569insLeuMet
NM_001184880.2:c.1703_1704insTTTAAT MANE Select	NP_001171809.1:p.Leu568_Ile569insLeuMet
NM_020766.3:c.1703_1704insTTTAAT	NP_065817.2:p.Leu568_Ile569insLeuMet