Canonical Allele Identifier: CA915951266
Gene: PCDH19 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100402805dup , CM000685.2:g.100402805dup GRCh38
NC_000023.10:g.99657803dup , CM000685.1:g.99657803dup GRCh37
NC_000023.9:g.99544459dup NCBI36
NG_021319.1:g.12475dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000636150.1:c.66-224dup ENSP00000490463.1:n.66-224dup
ENST00000255531.8:c.2200dup ENSP00000255531.7:p.Ile734AsnfsTer3
ENST00000373034.8:c.2341dup MANE Select ENSP00000362125.4:p.Ile781AsnfsTer3
ENST00000420881.6:c.2200dup ENSP00000400327.2:p.Ile734AsnfsTer3
NM_001105243.1:c.2200dup NP_001098713.1:p.Ile734AsnfsTer3
NM_001184880.1:c.2341dup NP_001171809.1:p.Ile781AsnfsTer3
NM_020766.2:c.2200dup NP_065817.2:p.Ile734AsnfsTer3
XM_011530997.1:c.2341dup XP_011529299.1:p.Ile781AsnfsTer3
XM_011530997.2:c.2341dup XP_011529299.1:p.Ile781AsnfsTer3
NM_001105243.2:c.2200dup NP_001098713.1:p.Ile734AsnfsTer3
NM_001184880.2:c.2341dup MANE Select NP_001171809.1:p.Ile781AsnfsTer3
NM_020766.3:c.2200dup NP_065817.2:p.Ile734AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'