Canonical Allele Identifier: CA2629083588
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66484974-TCTGTCTCTCCTGCAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66484976_66484990del , CM000677.2:g.66484976_66484990del GRCh38
NC_000015.9:g.66777314_66777328del , CM000677.1:g.66777314_66777328del GRCh37
NC_000015.8:g.64564368_64564382del NCBI36
NG_008305.1:g.103104_103118del , LRG_725:g.103104_103118del

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2252_628-2238del ENSP00000508681.1:n.628-2252_628-2238del
ENST00000685172.1:c.694-14_694del
ENST00000685763.1:c.547-14_547del
ENST00000686347.1:c.569-2252_569-2238del ENSP00000509027.1:n.569-2252_569-2238del
ENST00000687191.1:n.1052-14_1052del
ENST00000687481.1:n.95_109del
ENST00000689951.1:c.745-14_745del
ENST00000691077.1:c.694-18_694-4del ENSP00000509843.1:n.694-18_694-4del
ENST00000691576.1:c.569-18_569-4del ENSP00000510066.1:n.569-18_569-4del
ENST00000691937.1:c.694-14_694del
ENST00000692487.1:c.694-18_694-4del ENSP00000509534.1:n.694-18_694-4del
ENST00000692683.1:c.628-14_628del
ENST00000693150.1:c.550-14_550del
ENST00000307102.10:c.694-14_694del
ENST00000307102.9:c.694-14_694del
ENST00000566326.1:c.166-14_166del
NM_002755.3:c.694-14_694del , LRG_725t1:c.694-14_694del
XM_011521783.1:c.628-14_628del
XM_011521783.3:c.628-14_628del
XM_017022411.2:c.616-14_616del
XM_017022412.1:c.550-14_550del
XM_017022413.1:c.166-14_166del
NM_002755.4:c.694-14_694del
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