Canonical Allele Identifier: CA1539618450

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045419_37045423delinsGTAAA , CM000667.2:g.37045419_37045423delinsGTAAA	GRCh38
NC_000005.9:g.37045521_37045525delinsGTAAA , CM000667.1:g.37045521_37045525delinsGTAAA	GRCh37
NC_000005.8:g.37081278_37081282delinsGTAAA	NCBI36
NG_006987.1:g.173537_173541delinsGTAAA
NG_006987.2:g.173537_173541delinsGTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6344-24_6344-20delinsGTAAA MANE Select	ENSP00000282516.8:n.6344-24_6344-20delins...
ENST00000652901.1:c.6344-24_6344-20delinsGTAAA	ENSP00000499536.1:n.6344-24_6344-20delins...
ENST00000282516.12:c.6344-24_6344-20delinsGTAAA	ENSP00000282516.8:n.6344-24_6344-20delins...
ENST00000448238.2:c.6344-24_6344-20delinsGTAAA	ENSP00000406266.2:n.6344-24_6344-20delins...
ENST00000621733.1:c.1-19159_1-19155delinsGTAAA	ENSP00000480694.1:n.1-19159_1-19155delins...
NM_015384.4:c.6344-24_6344-20delinsGTAAA	NP_056199.2:n.6344-24_6344-20delinsGTAAA
NM_133433.3:c.6344-24_6344-20delinsGTAAA	NP_597677.2:n.6344-24_6344-20delinsGTAAA
XM_005248280.2:c.6344-24_6344-20delinsGTAAA	XP_005248337.1:n.6344-24_6344-20delinsGTA...
XM_005248282.3:c.5600-24_5600-20delinsGTAAA	XP_005248339.2:n.5600-24_5600-20delinsGTA...
XM_006714467.2:c.6344-24_6344-20delinsGTAAA	XP_006714530.1:n.6344-24_6344-20delinsGTA...
XM_006714468.1:c.6146-24_6146-20delinsGTAAA	XP_006714531.1:n.6146-24_6146-20delinsGTA...
XM_011514014.1:c.5963-24_5963-20delinsGTAAA	XP_011512316.1:n.5963-24_5963-20delinsGTA...
XM_011514015.1:c.6344-24_6344-20delinsGTAAA	XP_011512317.1:n.6344-24_6344-20delinsGTA...
XM_005248280.3:c.6344-24_6344-20delinsGTAAA	XP_005248337.1:n.6344-24_6344-20delinsGTA...
XM_005248282.5:c.5684-24_5684-20delinsGTAAA	XP_005248339.3:n.5684-24_5684-20delinsGTA...
XM_006714468.2:c.6146-24_6146-20delinsGTAAA	XP_006714531.1:n.6146-24_6146-20delinsGTA...
XM_017009329.1:c.6344-24_6344-20delinsGTAAA	XP_016864818.1:n.6344-24_6344-20delinsGTA...
XM_017009330.2:c.4727-24_4727-20delinsGTAAA	XP_016864819.1:n.4727-24_4727-20delinsGTA...
XM_017009331.1:c.4718-24_4718-20delinsGTAAA	XP_016864820.1:n.4718-24_4718-20delinsGTA...
NM_133433.4:c.6344-24_6344-20delinsGTAAA MANE Select	NP_597677.2:n.6344-24_6344-20delinsGTAAA
NM_015384.5:c.6344-24_6344-20delinsGTAAA	NP_056199.2:n.6344-24_6344-20delinsGTAAA