Canonical Allele Identifier: CA2171566176

Gene: EIF2AK4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978031_39978032delinsAT , CM000677.2:g.39978031_39978032delinsAT	GRCh38
NC_000015.9:g.40270232_40270233delinsAT , CM000677.1:g.40270232_40270233delinsAT	GRCh37
NC_000015.8:g.38057524_38057525delinsAT	NCBI36
NG_034053.1:g.48908_48909delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-47_2250-46delinsAT MANE Select	ENSP00000263791.5:n.2250-47_2250-46delinsAT
ENST00000263791.9:c.2250-47_2250-46delinsAT	ENSP00000263791.5:n.2250-47_2250-46delinsAT
ENST00000560855.5:c.1666-47_1666-46delinsAT
ENST00000624709.1:n.1053_1054delinsAT
NM_001013703.3:c.2250-47_2250-46delinsAT	NP_001013725.2:n.2250-47_2250-46delinsAT
XM_005254392.1:c.2250-47_2250-46delinsAT	XP_005254449.1:n.2250-47_2250-46delinsAT
XM_011521599.1:c.2250-47_2250-46delinsAT	XP_011519901.1:n.2250-47_2250-46delinsAT
XM_011521600.1:c.2250-47_2250-46delinsAT	XP_011519902.1:n.2250-47_2250-46delinsAT
XM_005254392.3:c.2250-47_2250-46delinsAT	XP_005254449.1:n.2250-47_2250-46delinsAT
XM_011521599.2:c.2250-47_2250-46delinsAT	XP_011519901.1:n.2250-47_2250-46delinsAT
XM_011521600.3:c.2250-47_2250-46delinsAT	XP_011519902.1:n.2250-47_2250-46delinsAT
XM_017022219.2:c.2250-47_2250-46delinsAT	XP_016877708.1:n.2250-47_2250-46delinsAT
NM_001013703.4:c.2250-47_2250-46delinsAT MANE Select	NP_001013725.2:n.2250-47_2250-46delinsAT