Canonical Allele Identifier: CA2628214290

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711290-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711294del , CM000677.2:g.44711294del	GRCh38
NC_000015.9:g.45003492del , CM000677.1:g.45003492del	GRCh37
NC_000015.8:g.42790784del	NCBI36
NG_012920.1:g.4808del
NG_012920.2:g.4818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-525del MANE Select	ENSP00000508024.1:n.-525del
ENST00000558573.1:n.26del
XM_011521338.1:c.-525del	XP_011519640.1:n.-525del
XM_011521339.1:c.-406del	XP_011519641.1:n.-406del
XM_011521340.1:c.-347del	XP_011519642.1:n.-347del
XM_011521343.1:c.-609del	XP_011519645.1:n.-609del
XM_011521345.1:c.-580del	XP_011519647.1:n.-580del
XM_011521338.3:c.-525del	XP_011519640.1:n.-525del
XM_011521339.3:c.-406del	XP_011519641.1:n.-406del
XM_011521340.3:c.-347del	XP_011519642.1:n.-347del
XM_011521343.3:c.-609del	XP_011519645.1:n.-609del
XM_011521345.3:c.-580del	XP_011519647.1:n.-580del
NM_001387260.1:c.-76+41del	NP_001374189.1:n.-76+41del
NM_001387261.1:c.-347del	NP_001374190.1:n.-347del
NM_001387262.1:c.-615del	NP_001374191.1:n.-615del
NM_001387263.1:c.-525del MANE Select	NP_001374192.1:n.-525del