Canonical Allele Identifier: CA2649657812
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039306-TTCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039309_197039311del , CM000663.2:g.197039309_197039311del GRCh38
NC_000001.10:g.197008439_197008441del , CM000663.1:g.197008439_197008441del GRCh37
NC_000001.9:g.195275062_195275064del NCBI36
NG_012065.1:g.32959_32961del , LRG_550:g.32959_32961del

Transcript Alleles

HGVS Amino-acid change
ENST00000367412.2:c.*69_*71del MANE Select ENSP00000356382.2:n.*69_*71del
ENST00000649282.1:c.810_812del ENSP00000497116.1:n.810_812del
ENST00000367412.1:c.*69_*71del ENSP00000356382.1:n.*69_*71del
NM_001994.2:c.*69_*71del , LRG_550t1:c.*69_*71del NP_001985.2:n.*69_*71del
XM_011509283.2:c.*990_*992del XP_011507585.1:n.*990_*992del
XM_011509284.2:c.*990_*992del XP_011507586.1:n.*990_*992del
XM_011509286.2:c.*990_*992del XP_011507588.1:n.*990_*992del
NM_001994.3:c.*69_*71del MANE Select NP_001985.2:n.*69_*71del
Search 100 bp 5'
Search 100 bp 3'