Canonical Allele Identifier: CA1010895716
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1654946660
gnomAD v3: 1-197039161-CAA-C
gnomAD v4: 1-197039161-CAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039164_197039165del , CM000663.2:g.197039164_197039165del GRCh38
NC_000001.10:g.197008294_197008295del , CM000663.1:g.197008294_197008295del GRCh37
NC_000001.9:g.195274917_195274918del NCBI36
NG_012065.1:g.33105_33106del , LRG_550:g.33105_33106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*215_*216del MANE Select ENSP00000356382.2:n.*215_*216del
ENST00000649282.1:c.956_957del ENSP00000497116.1:n.956_957del
XM_011509283.2:c.*1136_*1137del XP_011507585.1:n.*1136_*1137del
XM_011509284.2:c.*1136_*1137del XP_011507586.1:n.*1136_*1137del
XM_011509286.2:c.*1136_*1137del XP_011507588.1:n.*1136_*1137del
NM_001994.3:c.*215_*216del MANE Select NP_001985.2:n.*215_*216del
Search 100 bp 5'
Search 100 bp 3'