Canonical Allele Identifier: CA2673575630
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37051767_37051768insA , CM000667.2:g.37051767_37051768insA GRCh38
NC_000005.9:g.37051869_37051870insA , CM000667.1:g.37051869_37051870insA GRCh37
NC_000005.8:g.37087626_37087627insA NCBI36
NG_006987.1:g.179885_179886insA
NG_006987.2:g.179885_179886insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.6955-12_6955-11insA MANE Select ENSP00000282516.8:n.6955-12_6955-11insA
ENST00000652901.1:c.6955-12_6955-11insA ENSP00000499536.1:n.6955-12_6955-11insA
ENST00000282516.12:c.6955-12_6955-11insA ENSP00000282516.8:n.6955-12_6955-11insA
ENST00000448238.2:c.6955-12_6955-11insA ENSP00000406266.2:n.6955-12_6955-11insA
ENST00000514335.1:n.825_826insA
ENST00000621733.1:c.1-12811_1-12810insA ENSP00000480694.1:n.1-12811_1-12810insA
NM_015384.4:c.6955-12_6955-11insA NP_056199.2:n.6955-12_6955-11insA
NM_133433.3:c.6955-12_6955-11insA NP_597677.2:n.6955-12_6955-11insA
XM_005248280.2:c.6955-12_6955-11insA XP_005248337.1:n.6955-12_6955-11insA
XM_005248282.3:c.6211-12_6211-11insA XP_005248339.2:n.6211-12_6211-11insA
XM_006714467.2:c.6955-12_6955-11insA XP_006714530.1:n.6955-12_6955-11insA
XM_006714468.1:c.6757-12_6757-11insA XP_006714531.1:n.6757-12_6757-11insA
XM_011514014.1:c.6574-12_6574-11insA XP_011512316.1:n.6574-12_6574-11insA
XM_011514015.1:c.6955-12_6955-11insA XP_011512317.1:n.6955-12_6955-11insA
XM_005248280.3:c.6955-12_6955-11insA XP_005248337.1:n.6955-12_6955-11insA
XM_005248282.5:c.6295-12_6295-11insA XP_005248339.3:n.6295-12_6295-11insA
XM_006714468.2:c.6757-12_6757-11insA XP_006714531.1:n.6757-12_6757-11insA
XM_017009329.1:c.6955-12_6955-11insA XP_016864818.1:n.6955-12_6955-11insA
XM_017009330.2:c.5338-12_5338-11insA XP_016864819.1:n.5338-12_5338-11insA
XM_017009331.1:c.5329-12_5329-11insA XP_016864820.1:n.5329-12_5329-11insA
NM_133433.4:c.6955-12_6955-11insA MANE Select NP_597677.2:n.6955-12_6955-11insA
NM_015384.5:c.6955-12_6955-11insA NP_056199.2:n.6955-12_6955-11insA