Canonical Allele Identifier: CA2532936927

Gene: PTCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393507_23393508insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA , CM000685.2:g.23393507_23393508insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	GRCh38
NC_000023.10:g.23411624_23411625insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA , CM000685.1:g.23411624_23411625insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	GRCh37
NC_000023.9:g.23321545_23321546insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	NCBI36
NG_021300.1:g.63640_63641insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379361.5:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA MANE Select	ENSP00000368666.4:p.Asp663_Leu664insArgIleAsnLysArgValAspIleM...
ENST00000379361.4:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	ENSP00000368666.4:p.Asp663_Leu664insArgIleAsnLysArgValAspIleM...
NM_173495.2:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	NP_775766.2:p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetPheG...
XM_011545449.1:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	XP_011543751.1:p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetP...
XM_011545449.3:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA	XP_011543751.1:p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetP...
NM_173495.3:c.1989_1990insAGAATTAACAAAAGAGTTGACATAATGTTTGAAGAAGGCTTAGTTGAAGAGGTAGAAAATCTTTATAAGATATATGGAGAGAAATTATATAATTTAAATATAATTGGCTATAACGAA MANE Select	NP_775766.2:p.Asp663_Leu664insArgIleAsnLysArgValAspIleMetPheG...