Canonical Allele Identifier: CA528277330
Gene: F13B HGNC NCBI

Linked Data

dbSNP Id: rs1312771182
gnomAD v2: 1-197008219-ATAGTC-A
gnomAD v3: 1-197039089-ATAGTC-A
gnomAD v4: 1-197039089-ATAGTC-A
MyVariant Identifiers: chr1:g.197008220_197008224del (hg19) chr1:g.197039090_197039094del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197039095_197039099del , CM000663.2:g.197039095_197039099del GRCh38
NC_000001.10:g.197008225_197008229del , CM000663.1:g.197008225_197008229del GRCh37
NC_000001.9:g.195274848_195274852del NCBI36
NG_012065.1:g.33174_33178del , LRG_550:g.33174_33178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367412.2:c.*284_*288del MANE Select ENSP00000356382.2:n.*284_*288del
ENST00000649282.1:c.1025_1029del ENSP00000497116.1:n.1025_1029del
XM_011509283.2:c.*1205_*1209del XP_011507585.1:n.*1205_*1209del
XM_011509284.2:c.*1205_*1209del XP_011507586.1:n.*1205_*1209del
XM_011509286.2:c.*1205_*1209del XP_011507588.1:n.*1205_*1209del
NM_001994.3:c.*284_*288del MANE Select NP_001985.2:n.*284_*288del
Search 100 bp 5'
Search 100 bp 3'