Canonical Allele Identifier: CA640855619

Gene: PTCHD1

Linked Data

• dbSNP Id: rs1569143333
• gnomAD v2: X-23411608-G-GAGA
• gnomAD v4: X-23393491-G-GAGA
• MyVariant Identifiers: chrX:g.23411608_23411609insAGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393496_23393498dup , CM000685.2:g.23393496_23393498dup	GRCh38
NC_000023.10:g.23411613_23411615dup , CM000685.1:g.23411613_23411615dup	GRCh37
NC_000023.9:g.23321534_23321536dup	NCBI36
NG_021300.1:g.63629_63631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379361.5:c.1978_1980dup MANE Select	ENSP00000368666.4:p.Glu660_Leu661insGlu
ENST00000379361.4:c.1978_1980dup	ENSP00000368666.4:p.Glu660_Leu661insGlu
NM_173495.2:c.1978_1980dup	NP_775766.2:p.Glu660_Leu661insGlu
XM_011545449.1:c.1978_1980dup	XP_011543751.1:p.Glu660_Leu661insGlu
XM_011545449.3:c.1978_1980dup	XP_011543751.1:p.Glu660_Leu661insGlu
NM_173495.3:c.1978_1980dup MANE Select	NP_775766.2:p.Glu660_Leu661insGlu