Canonical Allele Identifier: CA2173753167

Gene: PATL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711079_44711082delinsCCTT , CM000677.2:g.44711079_44711082delinsCCTT	GRCh38
NC_000015.9:g.45003277_45003280delinsCCTT , CM000677.1:g.45003277_45003280delinsCCTT	GRCh37
NC_000015.8:g.42790569_42790572delinsCCTT	NCBI36
NG_012920.1:g.4593_4596delinsCCTT
NG_012920.2:g.4603_4606delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-316_-313delinsAAGG MANE Select	ENSP00000508024.1:n.-316_-313delinsAAGG
ENST00000558573.1:n.235_238delinsAAGG
XM_011521338.1:c.-316_-313delinsAAGG	XP_011519640.1:n.-316_-313delinsAAGG
XM_011521339.1:c.-197_-194delinsAAGG	XP_011519641.1:n.-197_-194delinsAAGG
XM_011521340.1:c.-138_-135delinsAAGG	XP_011519642.1:n.-138_-135delinsAAGG
XM_011521343.1:c.-400_-397delinsAAGG	XP_011519645.1:n.-400_-397delinsAAGG
XM_011521345.1:c.-371_-368delinsAAGG	XP_011519647.1:n.-371_-368delinsAAGG
XM_011521338.3:c.-316_-313delinsAAGG	XP_011519640.1:n.-316_-313delinsAAGG
XM_011521339.3:c.-197_-194delinsAAGG	XP_011519641.1:n.-197_-194delinsAAGG
XM_011521340.3:c.-138_-135delinsAAGG	XP_011519642.1:n.-138_-135delinsAAGG
XM_011521343.3:c.-400_-397delinsAAGG	XP_011519645.1:n.-400_-397delinsAAGG
XM_011521345.3:c.-371_-368delinsAAGG	XP_011519647.1:n.-371_-368delinsAAGG
NM_001387260.1:c.-76+250_-76+253delinsAAGG	NP_001374189.1:n.-76+250_-76+253delinsAAGG
NM_001387261.1:c.-138_-135delinsAAGG	NP_001374190.1:n.-138_-135delinsAAGG
NM_001387262.1:c.-406_-403delinsAAGG	NP_001374191.1:n.-406_-403delinsAAGG
NM_001387263.1:c.-316_-313delinsAAGG MANE Select	NP_001374192.1:n.-316_-313delinsAAGG