Canonical Allele Identifier: CA2173753177

Gene: PATL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711109_44711112delinsATCT , CM000677.2:g.44711109_44711112delinsATCT	GRCh38
NC_000015.9:g.45003307_45003310delinsATCT , CM000677.1:g.45003307_45003310delinsATCT	GRCh37
NC_000015.8:g.42790599_42790602delinsATCT	NCBI36
NG_012920.1:g.4623_4626delinsATCT
NG_012920.2:g.4633_4636delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-346_-343delinsAGAT MANE Select	ENSP00000508024.1:n.-346_-343delinsAGAT
ENST00000558573.1:n.205_208delinsAGAT
XM_011521338.1:c.-346_-343delinsAGAT	XP_011519640.1:n.-346_-343delinsAGAT
XM_011521339.1:c.-227_-224delinsAGAT	XP_011519641.1:n.-227_-224delinsAGAT
XM_011521340.1:c.-168_-165delinsAGAT	XP_011519642.1:n.-168_-165delinsAGAT
XM_011521343.1:c.-430_-427delinsAGAT	XP_011519645.1:n.-430_-427delinsAGAT
XM_011521345.1:c.-401_-398delinsAGAT	XP_011519647.1:n.-401_-398delinsAGAT
XM_011521338.3:c.-346_-343delinsAGAT	XP_011519640.1:n.-346_-343delinsAGAT
XM_011521339.3:c.-227_-224delinsAGAT	XP_011519641.1:n.-227_-224delinsAGAT
XM_011521340.3:c.-168_-165delinsAGAT	XP_011519642.1:n.-168_-165delinsAGAT
XM_011521343.3:c.-430_-427delinsAGAT	XP_011519645.1:n.-430_-427delinsAGAT
XM_011521345.3:c.-401_-398delinsAGAT	XP_011519647.1:n.-401_-398delinsAGAT
NM_001387260.1:c.-76+220_-76+223delinsAGAT	NP_001374189.1:n.-76+220_-76+223delinsAGAT
NM_001387261.1:c.-168_-165delinsAGAT	NP_001374190.1:n.-168_-165delinsAGAT
NM_001387262.1:c.-436_-433delinsAGAT	NP_001374191.1:n.-436_-433delinsAGAT
NM_001387263.1:c.-346_-343delinsAGAT MANE Select	NP_001374192.1:n.-346_-343delinsAGAT