Canonical Allele Identifier: CA2645959028

Gene: PATJ

Linked Data

• gnomAD v4: 1-61914578-TCACCATAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.61914579_61914587del , CM000663.2:g.61914579_61914587del	GRCh38
NC_000001.10:g.62380251_62380259del , CM000663.1:g.62380251_62380259del	GRCh37
NC_000001.9:g.62152839_62152847del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642238.2:c.3493-8_3493del
ENST00000316485.11:c.3491-3445_3491-3437del	ENSP00000326199.7:n.3491-3445_3491-3437del
ENST00000371158.6:c.3493-8_3493del
ENST00000459752.5:n.3607-8_3607del
ENST00000484562.5:n.3607-8_3607del
ENST00000484937.5:c.1870-8_1870del
ENST00000494842.2:c.29-8_29del
ENST00000613764.4:c.3381+13120_3381+13128del	ENSP00000479041.1:n.3381+13120_3381+13128del
ENST00000635023.1:c.*1461-8_*1461del
ENST00000635214.1:n.3607-8_3607del
NM_176877.2:c.3493-8_3493del
XM_005270341.2:c.3493-8_3493del
XM_005270347.1:c.3493-8_3493del
XM_006710278.2:c.3493-8_3493del
XM_011540462.1:c.3493-8_3493del
XM_011540463.1:c.3493-8_3493del
XM_011540464.1:c.3493-8_3493del
XM_011540465.1:c.3493-8_3493del
XM_011540466.1:c.3493-8_3493del
XM_011540467.1:c.3493-8_3493del
XM_011540468.1:c.3493-8_3493del
XM_011540469.1:c.3493-8_3493del
NM_001350145.1:c.3493-8_3493del
NM_176877.3:c.3493-8_3493del
XM_005270347.2:c.3493-8_3493del
XM_006710278.4:c.3493-8_3493del
XM_011540462.3:c.3493-8_3493del
XM_011540463.2:c.3493-8_3493del
XM_011540464.3:c.3493-8_3493del
XM_011540465.3:c.3493-8_3493del
XM_011540466.3:c.3493-8_3493del
XM_011540467.3:c.3493-8_3493del
XM_011540468.3:c.3493-8_3493del
XM_011540469.3:c.3493-8_3493del
XM_016999998.2:c.3493-8_3493del
XM_016999999.2:c.3493-8_3493del
XM_017000000.1:c.2584-8_2584del
XM_017000001.1:c.658-8_658del
XM_024448614.1:c.3493-8_3493del
XM_024448642.1:c.3493-8_3493del
XR_001736900.2:n.3607-8_3607del
XR_002957157.1:n.3607-8_3607del
NM_001350145.3:c.3493-8_3493del
NM_176877.5:c.3493-8_3493del