Canonical Allele Identifier: CA1539618388

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045335_37045339delinsCAGTG , CM000667.2:g.37045335_37045339delinsCAGTG	GRCh38
NC_000005.9:g.37045437_37045441delinsCAGTG , CM000667.1:g.37045437_37045441delinsCAGTG	GRCh37
NC_000005.8:g.37081194_37081198delinsCAGTG	NCBI36
NG_006987.1:g.173453_173457delinsCAGTG
NG_006987.2:g.173453_173457delinsCAGTG

Transcript Alleles

HGVS	Amino-acid Change
NM_133433.4:c.6344-108_6344-104delinsCAGTG MANE Select	NP_597677.2:n.6344-108_6344-104delinsCAGTG
ENST00000282516.13:c.6344-108_6344-104delinsCAGTG MANE Select	ENSP00000282516.8:n.6344-108_6344-104delinsCAGTG
NM_015384.4:c.6344-108_6344-104delinsCAGTG	NP_056199.2:n.6344-108_6344-104delinsCAGTG
NM_015384.5:c.6344-108_6344-104delinsCAGTG	NP_056199.2:n.6344-108_6344-104delinsCAGTG
NM_133433.3:c.6344-108_6344-104delinsCAGTG	NP_597677.2:n.6344-108_6344-104delinsCAGTG
ENST00000282516.12:c.6344-108_6344-104delinsCAGTG	ENSP00000282516.8:n.6344-108_6344-104delinsCAGTG
ENST00000448238.2:c.6344-108_6344-104delinsCAGTG	ENSP00000406266.2:n.6344-108_6344-104delinsCAGTG
ENST00000621733.1:c.1-19243_1-19239delinsCAGTG	ENSP00000480694.1:n.1-19243_1-19239delinsCAGTG
ENST00000652901.1:c.6344-108_6344-104delinsCAGTG	ENSP00000499536.1:n.6344-108_6344-104delinsCAGTG
XM_005248280.2:c.6344-108_6344-104delinsCAGTG	XP_005248337.1:n.6344-108_6344-104delinsCAGTG
XM_005248280.3:c.6344-108_6344-104delinsCAGTG	XP_005248337.1:n.6344-108_6344-104delinsCAGTG
XM_005248282.3:c.5600-108_5600-104delinsCAGTG	XP_005248339.2:n.5600-108_5600-104delinsCAGTG
XM_005248282.5:c.5684-108_5684-104delinsCAGTG	XP_005248339.3:n.5684-108_5684-104delinsCAGTG
XM_006714467.2:c.6344-108_6344-104delinsCAGTG	XP_006714530.1:n.6344-108_6344-104delinsCAGTG
XM_006714468.1:c.6146-108_6146-104delinsCAGTG	XP_006714531.1:n.6146-108_6146-104delinsCAGTG
XM_006714468.2:c.6146-108_6146-104delinsCAGTG	XP_006714531.1:n.6146-108_6146-104delinsCAGTG
XM_011514014.1:c.5963-108_5963-104delinsCAGTG	XP_011512316.1:n.5963-108_5963-104delinsCAGTG
XM_011514015.1:c.6344-108_6344-104delinsCAGTG	XP_011512317.1:n.6344-108_6344-104delinsCAGTG
XM_017009329.1:c.6344-108_6344-104delinsCAGTG	XP_016864818.1:n.6344-108_6344-104delinsCAGTG
XM_017009330.2:c.4727-108_4727-104delinsCAGTG	XP_016864819.1:n.4727-108_4727-104delinsCAGTG
XM_017009331.1:c.4718-108_4718-104delinsCAGTG	XP_016864820.1:n.4718-108_4718-104delinsCAGTG