Canonical Allele Identifier: CA2543640133

Gene: PATL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711156_44711157insAAGGAGAACTTCTGTTTATAACTACAGC , CM000677.2:g.44711156_44711157insAAGGAGAACTTCTGTTTATAACTACAGC	GRCh38
NC_000015.9:g.45003354_45003355insAAGGAGAACTTCTGTTTATAACTACAGC , CM000677.1:g.45003354_45003355insAAGGAGAACTTCTGTTTATAACTACAGC	GRCh37
NC_000015.8:g.42790646_42790647insAAGGAGAACTTCTGTTTATAACTACAGC	NCBI36
NG_012920.1:g.4670_4671insAAGGAGAACTTCTGTTTATAACTACAGC
NG_012920.2:g.4680_4681insAAGGAGAACTTCTGTTTATAACTACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT MANE Select	ENSP00000508024.1:n.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT
ENST00000558573.1:n.160_161insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521338.1:c.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519640.1:n.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521339.1:c.-272_-271insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519641.1:n.-272_-271insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521340.1:c.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519642.1:n.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521343.1:c.-475_-474insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519645.1:n.-475_-474insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521345.1:c.-446_-445insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519647.1:n.-446_-445insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521338.3:c.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519640.1:n.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521339.3:c.-272_-271insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519641.1:n.-272_-271insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521340.3:c.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519642.1:n.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521343.3:c.-475_-474insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519645.1:n.-475_-474insGCTGTAGTTATAAACAGAAGTTCTCCTT
XM_011521345.3:c.-446_-445insGCTGTAGTTATAAACAGAAGTTCTCCTT	XP_011519647.1:n.-446_-445insGCTGTAGTTATAAACAGAAGTTCTCCTT
NM_001387260.1:c.-76+175_-76+176insGCTGTAGTTATAAACAGAAGTTCTCCTT	NP_001374189.1:n.-76+175_-76+176insGCTGTAGTTATAAACAGAAGTTCTCC...
NM_001387261.1:c.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT	NP_001374190.1:n.-213_-212insGCTGTAGTTATAAACAGAAGTTCTCCTT
NM_001387262.1:c.-481_-480insGCTGTAGTTATAAACAGAAGTTCTCCTT	NP_001374191.1:n.-481_-480insGCTGTAGTTATAAACAGAAGTTCTCCTT
NM_001387263.1:c.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT MANE Select	NP_001374192.1:n.-391_-390insGCTGTAGTTATAAACAGAAGTTCTCCTT