Canonical Allele Identifier: CA2628214280

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711165-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711166del , CM000677.2:g.44711166del	GRCh38
NC_000015.9:g.45003364del , CM000677.1:g.45003364del	GRCh37
NC_000015.8:g.42790656del	NCBI36
NG_012920.1:g.4680del
NG_012920.2:g.4690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-400del MANE Select	ENSP00000508024.1:n.-400del
ENST00000558573.1:n.151del
XM_011521338.1:c.-400del	XP_011519640.1:n.-400del
XM_011521339.1:c.-281del	XP_011519641.1:n.-281del
XM_011521340.1:c.-222del	XP_011519642.1:n.-222del
XM_011521343.1:c.-484del	XP_011519645.1:n.-484del
XM_011521345.1:c.-455del	XP_011519647.1:n.-455del
XM_011521338.3:c.-400del	XP_011519640.1:n.-400del
XM_011521339.3:c.-281del	XP_011519641.1:n.-281del
XM_011521340.3:c.-222del	XP_011519642.1:n.-222del
XM_011521343.3:c.-484del	XP_011519645.1:n.-484del
XM_011521345.3:c.-455del	XP_011519647.1:n.-455del
NM_001387260.1:c.-76+166del	NP_001374189.1:n.-76+166del
NM_001387261.1:c.-222del	NP_001374190.1:n.-222del
NM_001387262.1:c.-490del	NP_001374191.1:n.-490del
NM_001387263.1:c.-400del MANE Select	NP_001374192.1:n.-400del