Canonical Allele Identifier: CA617218413

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1400371770
• gnomAD v2: 15-40269944-ATT-A
• gnomAD v3: 15-39977743-ATT-A
• gnomAD v4: 15-39977743-ATT-A
• MyVariant Identifiers: chr15:g.40269945_40269946del (hg19) ; chr15:g.39977744_39977745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977744_39977745del , CM000677.2:g.39977744_39977745del	GRCh38
NC_000015.9:g.40269945_40269946del , CM000677.1:g.40269945_40269946del	GRCh37
NC_000015.8:g.38057237_38057238del	NCBI36
NG_034053.1:g.48621_48622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-334_2250-333del MANE Select	ENSP00000263791.5:n.2250-334_2250-333del
ENST00000263791.9:c.2250-334_2250-333del	ENSP00000263791.5:n.2250-334_2250-333del
ENST00000560855.5:c.1666-334_1666-333del
ENST00000624709.1:n.766_767del
NM_001013703.3:c.2250-334_2250-333del	NP_001013725.2:n.2250-334_2250-333del
XM_005254392.1:c.2250-334_2250-333del	XP_005254449.1:n.2250-334_2250-333del
XM_011521599.1:c.2250-334_2250-333del	XP_011519901.1:n.2250-334_2250-333del
XM_011521600.1:c.2250-334_2250-333del	XP_011519902.1:n.2250-334_2250-333del
XM_005254392.3:c.2250-334_2250-333del	XP_005254449.1:n.2250-334_2250-333del
XM_011521599.2:c.2250-334_2250-333del	XP_011519901.1:n.2250-334_2250-333del
XM_011521600.3:c.2250-334_2250-333del	XP_011519902.1:n.2250-334_2250-333del
XM_017022219.2:c.2250-334_2250-333del	XP_016877708.1:n.2250-334_2250-333del
NM_001013703.4:c.2250-334_2250-333del MANE Select	NP_001013725.2:n.2250-334_2250-333del