Canonical Allele Identifier: CA8017626
Gene: SETD1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30980737_30980738del , CM000678.2:g.30980737_30980738del GRCh38
NC_000016.9:g.30992058_30992059del , CM000678.1:g.30992058_30992059del GRCh37
NC_000016.8:g.30899559_30899560del NCBI36
NG_012346.1:g.540_541del
NG_052948.1:g.28444_28445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.4582-2_4582-1del ENSP00000518195.1:n.4582-2_4582-1del
ENST00000684162.1:c.4582-2_4582-1del ENSP00000507683.1:n.4582-2_4582-1del
ENST00000262519.14:c.4582-2_4582-1del MANE Select ENSP00000262519.8:n.4582-2_4582-1del
ENST00000640410.1:n.606-2_606-1del
ENST00000262519.12:c.4582-2_4582-1del ENSP00000262519.8:n.4582-2_4582-1del
NM_014712.2:c.4582-2_4582-1del NP_055527.1:n.4582-2_4582-1del
XM_005255723.1:c.4582-2_4582-1del XP_005255780.1:n.4582-2_4582-1del
XM_006721106.2:c.4582-2_4582-1del XP_006721169.1:n.4582-2_4582-1del
XM_011545994.1:c.4582-2_4582-1del XP_011544296.1:n.4582-2_4582-1del
XM_011545995.1:c.4582-2_4582-1del XP_011544297.1:n.4582-2_4582-1del
XM_011545996.1:c.4582-2_4582-1del XP_011544298.1:n.4582-2_4582-1del
XM_006721106.3:c.4582-2_4582-1del XP_006721169.1:n.4582-2_4582-1del
XM_017023909.1:c.4582-2_4582-1del XP_016879398.1:n.4582-2_4582-1del
XM_024450499.1:c.4582-2_4582-1del XP_024306267.1:n.4582-2_4582-1del
NM_014712.3:c.4582-2_4582-1del MANE Select NP_055527.1:n.4582-2_4582-1del
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