Canonical Allele Identifier: CA2951869396
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045330_37045331insA , CM000667.2:g.37045330_37045331insA GRCh38
NC_000005.9:g.37045432_37045433insA , CM000667.1:g.37045432_37045433insA GRCh37
NC_000005.8:g.37081189_37081190insA NCBI36
NG_006987.1:g.173448_173449insA
NG_006987.2:g.173448_173449insA

Transcript Alleles

HGVS Amino-acid Change
NM_133433.4:c.6344-113_6344-112insA MANE Select NP_597677.2:n.6344-113_6344-112insA
ENST00000282516.13:c.6344-113_6344-112insA MANE Select ENSP00000282516.8:n.6344-113_6344-112insA
NM_015384.4:c.6344-113_6344-112insA NP_056199.2:n.6344-113_6344-112insA
NM_015384.5:c.6344-113_6344-112insA NP_056199.2:n.6344-113_6344-112insA
NM_133433.3:c.6344-113_6344-112insA NP_597677.2:n.6344-113_6344-112insA
ENST00000282516.12:c.6344-113_6344-112insA ENSP00000282516.8:n.6344-113_6344-112insA
ENST00000448238.2:c.6344-113_6344-112insA ENSP00000406266.2:n.6344-113_6344-112insA
ENST00000621733.1:c.1-19248_1-19247insA ENSP00000480694.1:n.1-19248_1-19247insA
ENST00000652901.1:c.6344-113_6344-112insA ENSP00000499536.1:n.6344-113_6344-112insA
XM_005248280.2:c.6344-113_6344-112insA XP_005248337.1:n.6344-113_6344-112insA
XM_005248280.3:c.6344-113_6344-112insA XP_005248337.1:n.6344-113_6344-112insA
XM_005248282.3:c.5600-113_5600-112insA XP_005248339.2:n.5600-113_5600-112insA
XM_005248282.5:c.5684-113_5684-112insA XP_005248339.3:n.5684-113_5684-112insA
XM_006714467.2:c.6344-113_6344-112insA XP_006714530.1:n.6344-113_6344-112insA
XM_006714468.1:c.6146-113_6146-112insA XP_006714531.1:n.6146-113_6146-112insA
XM_006714468.2:c.6146-113_6146-112insA XP_006714531.1:n.6146-113_6146-112insA
XM_011514014.1:c.5963-113_5963-112insA XP_011512316.1:n.5963-113_5963-112insA
XM_011514015.1:c.6344-113_6344-112insA XP_011512317.1:n.6344-113_6344-112insA
XM_017009329.1:c.6344-113_6344-112insA XP_016864818.1:n.6344-113_6344-112insA
XM_017009330.2:c.4727-113_4727-112insA XP_016864819.1:n.4727-113_4727-112insA
XM_017009331.1:c.4718-113_4718-112insA XP_016864820.1:n.4718-113_4718-112insA