Canonical Allele Identifier: CA1217904263
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1654958776
gnomAD v4: 1-197039495-TATA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039498_197039500del , CM000663.2:g.197039498_197039500del GRCh38
NC_000001.10:g.197008628_197008630del , CM000663.1:g.197008628_197008630del GRCh37
NC_000001.9:g.195275251_195275253del NCBI36
NG_012065.1:g.32770_32772del , LRG_550:g.32770_32772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.1953-87_1953-85del MANE Select ENSP00000356382.2:n.1953-87_1953-85del
ENST00000649282.1:c.708-87_708-85del ENSP00000497116.1:n.708-87_708-85del
ENST00000367412.1:c.1953-87_1953-85del ENSP00000356382.1:n.1953-87_1953-85del
NM_001994.2:c.1953-87_1953-85del , LRG_550t1:c.1953-87_1953-85del NP_001985.2:n.1953-87_1953-85del
XM_011509283.2:c.*801_*803del XP_011507585.1:n.*801_*803del
XM_011509284.2:c.*801_*803del XP_011507586.1:n.*801_*803del
XM_011509286.2:c.*801_*803del XP_011507588.1:n.*801_*803del
NM_001994.3:c.1953-87_1953-85del MANE Select NP_001985.2:n.1953-87_1953-85del
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