Canonical Allele Identifier: CA2649657777
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039255-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039258del , CM000663.2:g.197039258del GRCh38
NC_000001.10:g.197008388del , CM000663.1:g.197008388del GRCh37
NC_000001.9:g.195275011del NCBI36
NG_012065.1:g.33012del , LRG_550:g.33012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*122del MANE Select ENSP00000356382.2:n.*122del
ENST00000649282.1:c.863del ENSP00000497116.1:n.863del
ENST00000367412.1:c.*122del ENSP00000356382.1:n.*122del
NM_001994.2:c.*122del , LRG_550t1:c.*122del NP_001985.2:n.*122del
XM_011509283.2:c.*1043del XP_011507585.1:n.*1043del
XM_011509284.2:c.*1043del XP_011507586.1:n.*1043del
XM_011509286.2:c.*1043del XP_011507588.1:n.*1043del
NM_001994.3:c.*122del MANE Select NP_001985.2:n.*122del
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