Canonical Allele Identifier: CA2629083676
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66485312-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485314del , CM000677.2:g.66485314del GRCh38
NC_000015.9:g.66777652del , CM000677.1:g.66777652del GRCh37
NC_000015.8:g.64564706del NCBI36
NG_008305.1:g.103442del , LRG_725:g.103442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-1914del ENSP00000508681.1:n.628-1914del
ENST00000685172.1:c.895+123del ENSP00000509604.1:n.895+123del
ENST00000685763.1:c.748+123del ENSP00000509016.1:n.748+123del
ENST00000686347.1:c.569-1914del ENSP00000509027.1:n.569-1914del
ENST00000687191.1:n.1253+123del
ENST00000687481.1:n.310+123del
ENST00000689951.1:c.946+123del ENSP00000509308.1:n.946+123del
ENST00000691077.1:c.*132+123del ENSP00000509843.1:n.*132+123del
ENST00000691576.1:c.766+123del ENSP00000510066.1:n.766+123del
ENST00000691937.1:c.895+123del ENSP00000508768.1:n.895+123del
ENST00000692487.1:c.*132+123del ENSP00000509534.1:n.*132+123del
ENST00000692683.1:c.829+123del ENSP00000508437.1:n.829+123del
ENST00000693150.1:c.751+123del ENSP00000510309.1:n.751+123del
ENST00000307102.10:c.895+123del MANE Select ENSP00000302486.5:n.895+123del
ENST00000307102.9:c.895+123del ENSP00000302486.4:n.895+123del
ENST00000566326.1:c.367+123del ENSP00000456438.1:n.367+123del
NM_002755.3:c.895+123del , LRG_725t1:c.895+123del NP_002746.1:n.895+123del
XM_011521783.1:c.829+123del XP_011520085.1:n.829+123del
XM_011521783.3:c.829+123del XP_011520085.1:n.829+123del
XM_017022411.2:c.817+123del XP_016877900.1:n.817+123del
XM_017022412.1:c.751+123del XP_016877901.1:n.751+123del
XM_017022413.1:c.367+123del XP_016877902.1:n.367+123del
NM_002755.4:c.895+123del MANE Select NP_002746.1:n.895+123del
Search 100 bp 5'
Search 100 bp 3'