Canonical Allele Identifier: CA812363587
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1160314727
gnomAD v3: 5-56857463-ATCTC-A
gnomAD v4: 5-56857463-ATCTC-A
MyVariant Identifiers: chr5:g.56153291_56153294del (hg19) chr5:g.56857464_56857467del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56857468_56857471del , CM000667.2:g.56857468_56857471del GRCh38
NC_000005.9:g.56153295_56153298del , CM000667.1:g.56153295_56153298del GRCh37
NC_000005.8:g.56189052_56189055del NCBI36
NG_031884.1:g.47396_47399del

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.633+718_633+721del MANE Select ENSP00000382423.3:n.633+718_633+721del
ENST00000399503.3:c.633+718_633+721del ENSP00000382423.3:n.633+718_633+721del
NM_005921.1:c.633+718_633+721del NP_005912.1:n.633+718_633+721del
XM_005248519.3:c.255+718_255+721del XP_005248576.2:n.255+718_255+721del
XM_011543406.1:c.378+718_378+721del XP_011541708.1:n.378+718_378+721del
XM_011543407.1:c.633+718_633+721del XP_011541709.1:n.633+718_633+721del
XM_011543408.1:c.633+718_633+721del XP_011541710.1:n.633+718_633+721del
XM_017009484.1:c.222+718_222+721del XP_016864973.1:n.222+718_222+721del
XM_017009485.1:c.144+718_144+721del XP_016864974.1:n.144+718_144+721del
XR_001742068.2:n.664+718_664+721del
NM_005921.2:c.633+718_633+721del MANE Select NP_005912.1:n.633+718_633+721del
Search 100 bp 5'
Search 100 bp 3'