Canonical Allele Identifier: CA1425887608

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713672947

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142285_184142286del , CM000665.2:g.184142285_184142286del	GRCh38
NC_000003.11:g.183860073_183860074del , CM000665.1:g.183860073_183860074del	GRCh37
NC_000003.10:g.185342767_185342768del	NCBI36
NG_015826.1:g.12264_12265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1374_1375del
ENST00000468748.7:n.1594_1595del
ENST00000484154.2:n.1581_1582del
ENST00000491008.6:n.2099_2100del
ENST00000492226.2:n.1618_1619del
ENST00000492773.6:c.1105_1106del
ENST00000647636.1:c.*200_*201del	ENSP00000497505.1:n.*200_*201del
ENST00000647909.1:c.1375_1376del	ENSP00000498164.1:p.Leu459AlafsTer9
ENST00000648145.1:c.1123_1124del
ENST00000648189.1:c.1169_1170del
ENST00000648256.1:c.1323_1324del	ENSP00000497356.1:n.1323_1324del
ENST00000648314.1:c.*470_*471del	ENSP00000496920.1:n.*470_*471del
ENST00000648599.1:c.*634_*635del	ENSP00000497159.1:n.*634_*635del
ENST00000648630.1:c.1230_1231del	ENSP00000497887.1:n.1230_1231del
ENST00000648682.1:c.*191_*192del	ENSP00000498185.1:n.*191_*192del
ENST00000648882.1:c.*1177_*1178del	ENSP00000497603.1:n.*1177_*1178del
ENST00000648890.1:c.1351_1352del	ENSP00000497503.1:p.Leu451AlafsTer9
ENST00000648915.2:c.1351_1352del MANE Select	ENSP00000497160.1:p.Leu451AlafsTer9
ENST00000649545.1:c.724-13_724-12del
ENST00000649688.1:c.*644_*645del	ENSP00000497097.1:n.*644_*645del
ENST00000649814.1:n.1400_1401del
ENST00000650270.1:c.1218_1219del
ENST00000273783.7:c.1351_1352del	ENSP00000273783.3:p.Leu451AlafsTer9
ENST00000432982.5:c.294_295del
ENST00000444495.1:c.1351_1352del	ENSP00000409142.1:p.Leu451AlafsTer9
ENST00000479250.1:n.178_179del
ENST00000481054.5:n.1445_1446del
ENST00000491144.5:n.1855_1856del
ENST00000492773.5:n.234_235del
NM_003907.2:c.1351_1352del	NP_003898.2:p.Leu451AlafsTer9
XM_011513265.1:c.601_602del	XP_011511567.1:p.Leu201AlafsTer9
XM_011513266.1:c.514_515del	XP_011511568.1:p.Leu172AlafsTer9
XR_924208.1:n.2302_2303del
NM_003907.3:c.1351_1352del MANE Select	NP_003898.2:p.Leu451AlafsTer9
XM_011513266.3:c.514_515del	XP_011511568.1:p.Leu172AlafsTer9
XR_001740352.2:n.1714_1715del
XR_001740353.2:n.1714_1715del
XR_924208.2:n.1714_1715del