Canonical Allele Identifier: CA1135787581

Gene: PCDH19

Linked Data

• dbSNP Id: rs1928373153
• gnomAD v3: X-100406938-GGAT-G
• gnomAD v4: X-100406938-GGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406944_100406946del , CM000685.2:g.100406944_100406946del	GRCh38
NC_000023.10:g.99661942_99661944del , CM000685.1:g.99661942_99661944del	GRCh37
NC_000023.9:g.99548598_99548600del	NCBI36
NG_021319.1:g.8333_8335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1657_1659del	ENSP00000255531.7:p.Ile553del
ENST00000373034.8:c.1657_1659del MANE Select	ENSP00000362125.4:p.Ile553del
ENST00000420881.6:c.1657_1659del	ENSP00000400327.2:p.Ile553del
NM_001105243.1:c.1657_1659del	NP_001098713.1:p.Ile553del
NM_001184880.1:c.1657_1659del	NP_001171809.1:p.Ile553del
NM_020766.2:c.1657_1659del	NP_065817.2:p.Ile553del
XM_011530997.1:c.1657_1659del	XP_011529299.1:p.Ile553del
XM_011530997.2:c.1657_1659del	XP_011529299.1:p.Ile553del
NM_001105243.2:c.1657_1659del	NP_001098713.1:p.Ile553del
NM_001184880.2:c.1657_1659del MANE Select	NP_001171809.1:p.Ile553del
NM_020766.3:c.1657_1659del	NP_065817.2:p.Ile553del