Canonical Allele Identifier: CA2508946022

Gene: PCDH19

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406901_100406902insAAAAA , CM000685.2:g.100406901_100406902insAAAAA	GRCh38
NC_000023.10:g.99661899_99661900insAAAAA , CM000685.1:g.99661899_99661900insAAAAA	GRCh37
NC_000023.9:g.99548555_99548556insAAAAA	NCBI36
NG_021319.1:g.8372_8373insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1696_1697insTTTTT	ENSP00000255531.7:p.Pro566LeufsTer5
ENST00000373034.8:c.1696_1697insTTTTT MANE Select	ENSP00000362125.4:p.Pro566LeufsTer5
ENST00000420881.6:c.1696_1697insTTTTT	ENSP00000400327.2:p.Pro566LeufsTer5
NM_001105243.1:c.1696_1697insTTTTT	NP_001098713.1:p.Pro566LeufsTer5
NM_001184880.1:c.1696_1697insTTTTT	NP_001171809.1:p.Pro566LeufsTer5
NM_020766.2:c.1696_1697insTTTTT	NP_065817.2:p.Pro566LeufsTer5
XM_011530997.1:c.1696_1697insTTTTT	XP_011529299.1:p.Pro566LeufsTer5
XM_011530997.2:c.1696_1697insTTTTT	XP_011529299.1:p.Pro566LeufsTer5
NM_001105243.2:c.1696_1697insTTTTT	NP_001098713.1:p.Pro566LeufsTer5
NM_001184880.2:c.1696_1697insTTTTT MANE Select	NP_001171809.1:p.Pro566LeufsTer5
NM_020766.3:c.1696_1697insTTTTT	NP_065817.2:p.Pro566LeufsTer5