Canonical Allele Identifier: CA2649657675
Gene: F13B HGNC NCBI

Linked Data

gnomAD v4: 1-197039135-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039135_197039136insC , CM000663.2:g.197039135_197039136insC GRCh38
NC_000001.10:g.197008265_197008266insC , CM000663.1:g.197008265_197008266insC GRCh37
NC_000001.9:g.195274888_195274889insC NCBI36
NG_012065.1:g.33132_33133insG , LRG_550:g.33132_33133insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*242_*243insG MANE Select ENSP00000356382.2:n.*242_*243insG
ENST00000649282.1:c.983_984insG ENSP00000497116.1:n.983_984insG
XM_011509283.2:c.*1163_*1164insG XP_011507585.1:n.*1163_*1164insG
XM_011509284.2:c.*1163_*1164insG XP_011507586.1:n.*1163_*1164insG
XM_011509286.2:c.*1163_*1164insG XP_011507588.1:n.*1163_*1164insG
NM_001994.3:c.*242_*243insG MANE Select NP_001985.2:n.*242_*243insG
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