Canonical Allele Identifier: CA2673581562
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045336_37045337dup , CM000667.2:g.37045336_37045337dup GRCh38
NC_000005.9:g.37045438_37045439dup , CM000667.1:g.37045438_37045439dup GRCh37
NC_000005.8:g.37081195_37081196dup NCBI36
NG_006987.1:g.173454_173455dup
NG_006987.2:g.173454_173455dup

Transcript Alleles

HGVS Amino-acid Change
NM_133433.4:c.6344-107_6344-106dup MANE Select NP_597677.2:n.6344-107_6344-106dup
ENST00000282516.13:c.6344-107_6344-106dup MANE Select ENSP00000282516.8:n.6344-107_6344-106dup
NM_015384.4:c.6344-107_6344-106dup NP_056199.2:n.6344-107_6344-106dup
NM_015384.5:c.6344-107_6344-106dup NP_056199.2:n.6344-107_6344-106dup
NM_133433.3:c.6344-107_6344-106dup NP_597677.2:n.6344-107_6344-106dup
ENST00000282516.12:c.6344-107_6344-106dup ENSP00000282516.8:n.6344-107_6344-106dup
ENST00000448238.2:c.6344-107_6344-106dup ENSP00000406266.2:n.6344-107_6344-106dup
ENST00000621733.1:c.1-19242_1-19241dup ENSP00000480694.1:n.1-19242_1-19241dup
ENST00000652901.1:c.6344-107_6344-106dup ENSP00000499536.1:n.6344-107_6344-106dup
XM_005248280.2:c.6344-107_6344-106dup XP_005248337.1:n.6344-107_6344-106dup
XM_005248280.3:c.6344-107_6344-106dup XP_005248337.1:n.6344-107_6344-106dup
XM_005248282.3:c.5600-107_5600-106dup XP_005248339.2:n.5600-107_5600-106dup
XM_005248282.5:c.5684-107_5684-106dup XP_005248339.3:n.5684-107_5684-106dup
XM_006714467.2:c.6344-107_6344-106dup XP_006714530.1:n.6344-107_6344-106dup
XM_006714468.1:c.6146-107_6146-106dup XP_006714531.1:n.6146-107_6146-106dup
XM_006714468.2:c.6146-107_6146-106dup XP_006714531.1:n.6146-107_6146-106dup
XM_011514014.1:c.5963-107_5963-106dup XP_011512316.1:n.5963-107_5963-106dup
XM_011514015.1:c.6344-107_6344-106dup XP_011512317.1:n.6344-107_6344-106dup
XM_017009329.1:c.6344-107_6344-106dup XP_016864818.1:n.6344-107_6344-106dup
XM_017009330.2:c.4727-107_4727-106dup XP_016864819.1:n.4727-107_4727-106dup
XM_017009331.1:c.4718-107_4718-106dup XP_016864820.1:n.4718-107_4718-106dup