Canonical Allele Identifier: CA2143596052

Gene: GPHN

Linked Data

• dbSNP Id: rs2057878886

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.66508466_66508480del , CM000676.2:g.66508466_66508480del	GRCh38
NC_000014.8:g.66975184_66975198del , CM000676.1:g.66975184_66975198del	GRCh37
NC_000014.7:g.66044937_66044951del	NCBI36
NG_008875.1:g.6060_6074del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478722.6:c.-62_-48del MANE Select	ENSP00000417901.1:n.-62_-48del
ENST00000315266.9:c.-62_-48del	ENSP00000312771.5:n.-62_-48del
ENST00000459628.5:c.-62_-48del	ENSP00000452220.1:n.-62_-48del
ENST00000478722.5:c.-62_-48del	ENSP00000417901.1:n.-62_-48del
NM_001024218.1:c.-62_-48del	NP_001019389.1:n.-62_-48del
NM_020806.4:c.-62_-48del	NP_065857.1:n.-62_-48del
XM_005267254.2:c.-62_-48del	XP_005267311.1:n.-62_-48del
XM_011536340.1:c.-62_-48del	XP_011534642.1:n.-62_-48del
XM_011536342.1:c.-62_-48del	XP_011534644.1:n.-62_-48del
XM_011536343.1:c.-62_-48del	XP_011534645.1:n.-62_-48del
XM_011536344.1:c.-62_-48del	XP_011534646.1:n.-62_-48del
XM_011536345.1:c.-62_-48del	XP_011534647.1:n.-62_-48del
XM_011536346.1:c.-62_-48del	XP_011534648.1:n.-62_-48del
XM_011536347.1:c.-62_-48del	XP_011534649.1:n.-62_-48del
XM_011536349.1:c.-62_-48del	XP_011534651.1:n.-62_-48del
XM_005267254.4:c.-62_-48del	XP_005267311.1:n.-62_-48del
XM_011536340.3:c.-62_-48del	XP_011534642.1:n.-62_-48del
XM_011536342.3:c.-62_-48del	XP_011534644.1:n.-62_-48del
XM_011536343.3:c.-62_-48del	XP_011534645.1:n.-62_-48del
XM_011536344.3:c.-62_-48del	XP_011534646.1:n.-62_-48del
XM_011536345.3:c.-62_-48del	XP_011534647.1:n.-62_-48del
XM_011536346.3:c.-62_-48del	XP_011534648.1:n.-62_-48del
XM_011536347.2:c.-62_-48del	XP_011534649.1:n.-62_-48del
XM_017020913.2:c.-62_-48del	XP_016876402.1:n.-62_-48del
XM_017020914.2:c.-62_-48del	XP_016876403.1:n.-62_-48del
XM_017020916.2:c.-62_-48del	XP_016876405.1:n.-62_-48del
XM_017020917.2:c.-62_-48del	XP_016876406.1:n.-62_-48del
XM_017020918.2:c.-62_-48del	XP_016876407.1:n.-62_-48del
XM_017020919.2:c.-62_-48del	XP_016876408.1:n.-62_-48del
XM_017020920.2:c.-343_-329del	XP_016876409.1:n.-343_-329del
XM_017020921.1:c.-494_-480del	XP_016876410.1:n.-494_-480del
XM_017020923.1:c.-494_-480del	XP_016876412.1:n.-494_-480del
XM_017020924.1:c.-1073_-1059del	XP_016876413.1:n.-1073_-1059del
XM_017020925.2:c.-62_-48del	XP_016876414.1:n.-62_-48del
XM_017020926.1:c.-1073_-1059del	XP_016876415.1:n.-1073_-1059del
NM_001377514.1:c.-62_-48del	NP_001364443.1:n.-62_-48del
NM_001377515.1:c.-62_-48del	NP_001364444.1:n.-62_-48del
NM_001377516.1:c.-62_-48del	NP_001364445.1:n.-62_-48del
NM_001377517.1:c.-62_-48del	NP_001364446.1:n.-62_-48del
NM_001377518.1:c.-62_-48del	NP_001364447.1:n.-62_-48del
NM_001377519.1:c.-62_-48del	NP_001364448.1:n.-62_-48del
NM_001024218.2:c.-62_-48del	NP_001019389.1:n.-62_-48del
NM_020806.5:c.-62_-48del MANE Select	NP_065857.1:n.-62_-48del