Canonical Allele Identifier: CA1539618405

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045362_37045364delinsTTG , CM000667.2:g.37045362_37045364delinsTTG	GRCh38
NC_000005.9:g.37045464_37045466delinsTTG , CM000667.1:g.37045464_37045466delinsTTG	GRCh37
NC_000005.8:g.37081221_37081223delinsTTG	NCBI36
NG_006987.1:g.173480_173482delinsTTG
NG_006987.2:g.173480_173482delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6344-81_6344-79delinsTTG MANE Select	ENSP00000282516.8:n.6344-81_6344-79delinsTTG
ENST00000652901.1:c.6344-81_6344-79delinsTTG	ENSP00000499536.1:n.6344-81_6344-79delinsTTG
ENST00000282516.12:c.6344-81_6344-79delinsTTG	ENSP00000282516.8:n.6344-81_6344-79delinsTTG
ENST00000448238.2:c.6344-81_6344-79delinsTTG	ENSP00000406266.2:n.6344-81_6344-79delinsTTG
ENST00000621733.1:c.1-19216_1-19214delinsTTG	ENSP00000480694.1:n.1-19216_1-19214delinsTTG
NM_015384.4:c.6344-81_6344-79delinsTTG	NP_056199.2:n.6344-81_6344-79delinsTTG
NM_133433.3:c.6344-81_6344-79delinsTTG	NP_597677.2:n.6344-81_6344-79delinsTTG
XM_005248280.2:c.6344-81_6344-79delinsTTG	XP_005248337.1:n.6344-81_6344-79delinsTTG
XM_005248282.3:c.5600-81_5600-79delinsTTG	XP_005248339.2:n.5600-81_5600-79delinsTTG
XM_006714467.2:c.6344-81_6344-79delinsTTG	XP_006714530.1:n.6344-81_6344-79delinsTTG
XM_006714468.1:c.6146-81_6146-79delinsTTG	XP_006714531.1:n.6146-81_6146-79delinsTTG
XM_011514014.1:c.5963-81_5963-79delinsTTG	XP_011512316.1:n.5963-81_5963-79delinsTTG
XM_011514015.1:c.6344-81_6344-79delinsTTG	XP_011512317.1:n.6344-81_6344-79delinsTTG
XM_005248280.3:c.6344-81_6344-79delinsTTG	XP_005248337.1:n.6344-81_6344-79delinsTTG
XM_005248282.5:c.5684-81_5684-79delinsTTG	XP_005248339.3:n.5684-81_5684-79delinsTTG
XM_006714468.2:c.6146-81_6146-79delinsTTG	XP_006714531.1:n.6146-81_6146-79delinsTTG
XM_017009329.1:c.6344-81_6344-79delinsTTG	XP_016864818.1:n.6344-81_6344-79delinsTTG
XM_017009330.2:c.4727-81_4727-79delinsTTG	XP_016864819.1:n.4727-81_4727-79delinsTTG
XM_017009331.1:c.4718-81_4718-79delinsTTG	XP_016864820.1:n.4718-81_4718-79delinsTTG
NM_133433.4:c.6344-81_6344-79delinsTTG MANE Select	NP_597677.2:n.6344-81_6344-79delinsTTG
NM_015384.5:c.6344-81_6344-79delinsTTG	NP_056199.2:n.6344-81_6344-79delinsTTG