Canonical Allele Identifier: CA2573155498
Community Standard Title: NM_003839.4(TNFRSF11A):c.1530dup (p.Ser511ValfsTer20)
Gene: TNFRSF11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62369447dup , CM000680.2:g.62369447dup GRCh38
NC_000018.9:g.60036680dup , CM000680.1:g.60036680dup GRCh37
NC_000018.8:g.58187660dup NCBI36
NG_008098.1:g.49133dup , LRG_194:g.49133dup

Transcript Alleles

HGVS Amino-acid Change
NM_003839.4:c.1530dup MANE Select NP_003830.1:p.Ser511ValfsTer20
ENST00000586569.3:c.1530dup MANE Select ENSP00000465500.1:p.Ser511ValfsTer20
NM_001270949.1:c.783+2687dup NP_001257878.1:n.783+2687dup
NM_001270949.2:c.783+2687dup NP_001257878.1:n.783+2687dup
NM_001270950.1:c.730+7654dup NP_001257879.1:n.730+7654dup
NM_001270950.2:c.730+7654dup NP_001257879.1:n.730+7654dup
NM_001270951.1:c.616+9398dup NP_001257880.1:n.616+9398dup
NM_001270951.2:c.616+9398dup NP_001257880.1:n.616+9398dup
NM_001278268.1:c.1488dup NP_001265197.1:p.Ser497ValfsTer20
NM_001278268.2:c.1488dup NP_001265197.1:p.Ser497ValfsTer20
NM_003839.3:c.1530dup NP_003830.1:p.Ser511ValfsTer20
ENST00000269485.11:c.616+9398dup ENSP00000269485.7:n.616+9398dup
ENST00000586569.2:c.1530dup ENSP00000465500.1:p.Ser511ValfsTer20
ENST00000616710.4:c.783+2687dup ENSP00000479567.1:n.783+2687dup
ENST00000617039.4:c.730+7654dup ENSP00000482466.1:n.730+7654dup
XM_011526244.1:c.1545dup XP_011524546.1:p.Ser516ValfsTer20
XM_011526244.2:c.1545dup XP_011524546.1:p.Ser516ValfsTer20
XM_011526245.1:c.1422dup XP_011524547.1:p.Ser475ValfsTer20
XM_011526245.2:c.1422dup XP_011524547.1:p.Ser475ValfsTer20
XM_017026064.1:c.1422dup XP_016881553.1:p.Ser475ValfsTer20
XM_017026065.1:c.1380dup XP_016881554.1:p.Ser461ValfsTer20
XM_017026066.1:c.1320dup XP_016881555.1:p.Ser441ValfsTer20
XR_935263.1:n.1560dup