Canonical Allele Identifier: CA2573159041

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 1395976
• ClinVar RCV Id: RCV001887315
• dbSNP Id: rs2147538982

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100407237_100407238delinsTT , CM000685.2:g.100407237_100407238delinsTT	GRCh38
NC_000023.10:g.99662235_99662236delinsTT , CM000685.1:g.99662235_99662236delinsTT	GRCh37
NC_000023.9:g.99548891_99548892delinsTT	NCBI36
NG_021319.1:g.8036_8037delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1360_1361delinsAA	ENSP00000255531.7:p.Ser454Asn
ENST00000373034.8:c.1360_1361delinsAA MANE Select	ENSP00000362125.4:p.Ser454Asn
ENST00000420881.6:c.1360_1361delinsAA	ENSP00000400327.2:p.Ser454Asn
NM_001105243.1:c.1360_1361delinsAA	NP_001098713.1:p.Ser454Asn
NM_001184880.1:c.1360_1361delinsAA	NP_001171809.1:p.Ser454Asn
NM_020766.2:c.1360_1361delinsAA	NP_065817.2:p.Ser454Asn
XM_011530997.1:c.1360_1361delinsAA	XP_011529299.1:p.Ser454Asn
XM_011530997.2:c.1360_1361delinsAA	XP_011529299.1:p.Ser454Asn
NM_001105243.2:c.1360_1361delinsAA	NP_001098713.1:p.Ser454Asn
NM_001184880.2:c.1360_1361delinsAA MANE Select	NP_001171809.1:p.Ser454Asn
NM_020766.3:c.1360_1361delinsAA	NP_065817.2:p.Ser454Asn