Canonical Allele Identifier: CA1548129228
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859830_56859831delinsGT , CM000667.2:g.56859830_56859831delinsGT GRCh38
NC_000005.9:g.56155657_56155658delinsGT , CM000667.1:g.56155657_56155658delinsGT GRCh37
NC_000005.8:g.56191414_56191415delinsGT NCBI36
NG_031884.1:g.49758_49759delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.749_750delinsGT MANE Select ENSP00000382423.3:p.Ser250=
ENST00000399503.3:c.749_750delinsGT ENSP00000382423.3:p.Ser250=
NM_005921.1:c.749_750delinsGT NP_005912.1:p.Ser250=
XM_005248519.3:c.371_372delinsGT XP_005248576.2:p.Ser124=
XM_011543406.1:c.494_495delinsGT XP_011541708.1:p.Ser165=
XM_011543407.1:c.749_750delinsGT XP_011541709.1:p.Ser250=
XM_011543408.1:c.749_750delinsGT XP_011541710.1:p.Ser250=
XM_017009484.1:c.338_339delinsGT XP_016864973.1:p.Ser113=
XM_017009485.1:c.260_261delinsGT XP_016864974.1:p.Ser87=
XR_001742068.2:n.780_781delinsGT
NM_005921.2:c.749_750delinsGT MANE Select NP_005912.1:p.Ser250=