Canonical Allele Identifier: CA645576720
Community Standard Title: NM_004048.4(B2M):c.45_48del (p.Ser16AlafsTer27)
Gene: B2M HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711591_44711594del , CM000677.2:g.44711591_44711594del GRCh38
NC_000015.9:g.45003789_45003792del , CM000677.1:g.45003789_45003792del GRCh37
NC_000015.8:g.42791081_42791084del NCBI36
NG_012920.1:g.5105_5108del
NG_012920.2:g.5115_5118del

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.45_48del MANE Select NP_004039.1:p.Ser16AlafsTer27
ENST00000648006.3:c.45_48del MANE Select ENSP00000497910.1:p.Ser16AlafsTer27
NM_004048.2:c.45_48del NP_004039.1:p.Ser16AlafsTer27
NM_004048.3:c.45_48del NP_004039.1:p.Ser16AlafsTer27
ENST00000349264.10:c.45_48del ENSP00000340858.6:p.Ser16AlafsTer6
ENST00000544417.5:c.45_48del ENSP00000437604.2:p.Ser16AlafsTer26
ENST00000557901.5:c.45_48del ENSP00000452861.1:p.Ser16AlafsTer?
ENST00000558401.5:c.45_48del ENSP00000452780.1:p.Ser16AlafsTer27
ENST00000559720.5:n.105_108del
ENST00000559916.1:c.45_48del ENSP00000453350.1:p.Ser16AlafsTer27
ENST00000561424.5:c.45_48del ENSP00000453191.1:p.Ser16AlafsTer27
ENST00000695792.1:n.83+151_83+154del
XM_005254549.2:c.45_48del XP_005254606.1:p.Ser16AlafsTer27
XM_005254549.3:c.45_48del XP_005254606.1:p.Ser16AlafsTer27
XR_002957658.1:n.100_103del
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