Canonical Allele Identifier: CA2628213762

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711009-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711014del , CM000677.2:g.44711014del	GRCh38
NC_000015.9:g.45003212del , CM000677.1:g.45003212del	GRCh37
NC_000015.8:g.42790504del	NCBI36
NG_012920.1:g.4528del
NG_012920.2:g.4538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-254+10del MANE Select	ENSP00000508024.1:n.-254+10del
ENST00000558573.1:n.297+10del
XM_011521338.1:c.-254+10del	XP_011519640.1:n.-254+10del
XM_011521339.1:c.-135+10del	XP_011519641.1:n.-135+10del
XM_011521340.1:c.-76+10del	XP_011519642.1:n.-76+10del
XM_011521343.1:c.-338+10del	XP_011519645.1:n.-338+10del
XM_011521345.1:c.-309+10del	XP_011519647.1:n.-309+10del
XM_011521338.3:c.-254+10del	XP_011519640.1:n.-254+10del
XM_011521339.3:c.-135+10del	XP_011519641.1:n.-135+10del
XM_011521340.3:c.-76+10del	XP_011519642.1:n.-76+10del
XM_011521343.3:c.-338+10del	XP_011519645.1:n.-338+10del
XM_011521345.3:c.-309+10del	XP_011519647.1:n.-309+10del
NM_001387260.1:c.-76+322del	NP_001374189.1:n.-76+322del
NM_001387261.1:c.-76+10del	NP_001374190.1:n.-76+10del
NM_001387262.1:c.-334del	NP_001374191.1:n.-334del
NM_001387263.1:c.-254+10del MANE Select	NP_001374192.1:n.-254+10del