Canonical Allele Identifier: CA2628214284

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711218-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711223del , CM000677.2:g.44711223del	GRCh38
NC_000015.9:g.45003421del , CM000677.1:g.45003421del	GRCh37
NC_000015.8:g.42790713del	NCBI36
NG_012920.1:g.4737del
NG_012920.2:g.4747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-453del MANE Select	ENSP00000508024.1:n.-453del
ENST00000558573.1:n.98del
XM_011521338.1:c.-453del	XP_011519640.1:n.-453del
XM_011521339.1:c.-334del	XP_011519641.1:n.-334del
XM_011521340.1:c.-275del	XP_011519642.1:n.-275del
XM_011521343.1:c.-537del	XP_011519645.1:n.-537del
XM_011521345.1:c.-508del	XP_011519647.1:n.-508del
XM_011521338.3:c.-453del	XP_011519640.1:n.-453del
XM_011521339.3:c.-334del	XP_011519641.1:n.-334del
XM_011521340.3:c.-275del	XP_011519642.1:n.-275del
XM_011521343.3:c.-537del	XP_011519645.1:n.-537del
XM_011521345.3:c.-508del	XP_011519647.1:n.-508del
NM_001387260.1:c.-76+113del	NP_001374189.1:n.-76+113del
NM_001387261.1:c.-275del	NP_001374190.1:n.-275del
NM_001387262.1:c.-543del	NP_001374191.1:n.-543del
NM_001387263.1:c.-453del MANE Select	NP_001374192.1:n.-453del