Canonical Allele Identifier: CA2645958933

Gene: PATJ

Linked Data

• gnomAD v4: 1-61914520-GAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914525_61914528del , CM000663.2:g.61914525_61914528del	GRCh38
NC_000001.10:g.62380197_62380200del , CM000663.1:g.62380197_62380200del	GRCh37
NC_000001.9:g.62152785_62152788del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000642238.2:c.3493-62_3493-59del MANE Select	ENSP00000494277.1:n.3493-62_3493-59del
ENST00000316485.11:c.3491-3499_3491-3496del	ENSP00000326199.7:n.3491-3499_3491-3496de...
ENST00000371158.6:c.3493-62_3493-59del	ENSP00000360200.2:n.3493-62_3493-59del
ENST00000459752.5:n.3607-62_3607-59del
ENST00000484562.5:n.3607-62_3607-59del
ENST00000484937.5:c.1870-62_1870-59del	ENSP00000433669.1:n.1870-62_1870-59del
ENST00000494842.2:c.29-62_29-59del
ENST00000613764.4:c.3381+13066_3381+13069del	ENSP00000479041.1:n.3381+13066_3381+13069...
ENST00000635023.1:c.*1461-62_*1461-59del	ENSP00000489335.1:n.*1461-62_*1461-59del
ENST00000635214.1:n.3607-62_3607-59del
NM_176877.2:c.3493-62_3493-59del	NP_795352.2:n.3493-62_3493-59del
XM_005270341.2:c.3493-62_3493-59del	XP_005270398.1:n.3493-62_3493-59del
XM_005270347.1:c.3493-62_3493-59del	XP_005270404.1:n.3493-62_3493-59del
XM_006710278.2:c.3493-62_3493-59del	XP_006710341.1:n.3493-62_3493-59del
XM_011540462.1:c.3493-62_3493-59del	XP_011538764.1:n.3493-62_3493-59del
XM_011540463.1:c.3493-62_3493-59del	XP_011538765.1:n.3493-62_3493-59del
XM_011540464.1:c.3493-62_3493-59del	XP_011538766.1:n.3493-62_3493-59del
XM_011540465.1:c.3493-62_3493-59del	XP_011538767.1:n.3493-62_3493-59del
XM_011540466.1:c.3493-62_3493-59del	XP_011538768.1:n.3493-62_3493-59del
XM_011540467.1:c.3493-62_3493-59del	XP_011538769.1:n.3493-62_3493-59del
XM_011540468.1:c.3493-62_3493-59del	XP_011538770.1:n.3493-62_3493-59del
XM_011540469.1:c.3493-62_3493-59del	XP_011538771.1:n.3493-62_3493-59del
NM_001350145.1:c.3493-62_3493-59del	NP_001337074.1:n.3493-62_3493-59del
NM_176877.3:c.3493-62_3493-59del	NP_795352.2:n.3493-62_3493-59del
XM_005270347.2:c.3493-62_3493-59del	XP_005270404.1:n.3493-62_3493-59del
XM_006710278.4:c.3493-62_3493-59del	XP_006710341.1:n.3493-62_3493-59del
XM_011540462.3:c.3493-62_3493-59del	XP_011538764.1:n.3493-62_3493-59del
XM_011540463.2:c.3493-62_3493-59del	XP_011538765.1:n.3493-62_3493-59del
XM_011540464.3:c.3493-62_3493-59del	XP_011538766.1:n.3493-62_3493-59del
XM_011540465.3:c.3493-62_3493-59del	XP_011538767.1:n.3493-62_3493-59del
XM_011540466.3:c.3493-62_3493-59del	XP_011538768.1:n.3493-62_3493-59del
XM_011540467.3:c.3493-62_3493-59del	XP_011538769.1:n.3493-62_3493-59del
XM_011540468.3:c.3493-62_3493-59del	XP_011538770.1:n.3493-62_3493-59del
XM_011540469.3:c.3493-62_3493-59del	XP_011538771.1:n.3493-62_3493-59del
XM_016999998.2:c.3493-62_3493-59del	XP_016855487.1:n.3493-62_3493-59del
XM_016999999.2:c.3493-62_3493-59del	XP_016855488.1:n.3493-62_3493-59del
XM_017000000.1:c.2584-62_2584-59del	XP_016855489.1:n.2584-62_2584-59del
XM_017000001.1:c.658-62_658-59del	XP_016855490.1:n.658-62_658-59del
XM_024448614.1:c.3493-62_3493-59del	XP_024304382.1:n.3493-62_3493-59del
XM_024448642.1:c.3493-62_3493-59del	XP_024304410.1:n.3493-62_3493-59del
XR_001736900.2:n.3607-62_3607-59del
XR_002957157.1:n.3607-62_3607-59del
NM_001350145.3:c.3493-62_3493-59del MANE Select	NP_001337074.2:n.3493-62_3493-59del
NM_176877.5:c.3493-62_3493-59del	NP_795352.3:n.3493-62_3493-59del