Canonical Allele Identifier: CA1539599843

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995554_36995555delinsAC , CM000667.2:g.36995554_36995555delinsAC	GRCh38
NC_000005.9:g.36995656_36995657delinsAC , CM000667.1:g.36995656_36995657delinsAC	GRCh37
NC_000005.8:g.37031413_37031414delinsAC	NCBI36
NG_006987.1:g.123672_123673delinsAC
NG_006987.2:g.123672_123673delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3122-68_3122-67delinsAC MANE Select	ENSP00000282516.8:n.3122-68_3122-67delinsAC
ENST00000652901.1:c.3122-68_3122-67delinsAC	ENSP00000499536.1:n.3122-68_3122-67delinsAC
ENST00000282516.12:c.3122-68_3122-67delinsAC	ENSP00000282516.8:n.3122-68_3122-67delinsAC
ENST00000448238.2:c.3122-68_3122-67delinsAC	ENSP00000406266.2:n.3122-68_3122-67delinsAC
ENST00000503274.1:n.405_406delinsAC
ENST00000504430.5:n.2742-68_2742-67delinsAC
ENST00000621733.1:c.1-69024_1-69023delinsAC	ENSP00000480694.1:n.1-69024_1-69023delinsAC
NM_015384.4:c.3122-68_3122-67delinsAC	NP_056199.2:n.3122-68_3122-67delinsAC
NM_133433.3:c.3122-68_3122-67delinsAC	NP_597677.2:n.3122-68_3122-67delinsAC
XM_005248280.2:c.3122-68_3122-67delinsAC	XP_005248337.1:n.3122-68_3122-67delinsAC
XM_005248282.3:c.2378-68_2378-67delinsAC	XP_005248339.2:n.2378-68_2378-67delinsAC
XM_006714467.2:c.3122-68_3122-67delinsAC	XP_006714530.1:n.3122-68_3122-67delinsAC
XM_006714468.1:c.3122-68_3122-67delinsAC	XP_006714531.1:n.3122-68_3122-67delinsAC
XM_011514014.1:c.3122-5263_3122-5262delinsAC	XP_011512316.1:n.3122-5263_3122-5262delinsAC
XM_011514015.1:c.3122-68_3122-67delinsAC	XP_011512317.1:n.3122-68_3122-67delinsAC
XM_005248280.3:c.3122-68_3122-67delinsAC	XP_005248337.1:n.3122-68_3122-67delinsAC
XM_005248282.5:c.2462-68_2462-67delinsAC	XP_005248339.3:n.2462-68_2462-67delinsAC
XM_006714468.2:c.3122-68_3122-67delinsAC	XP_006714531.1:n.3122-68_3122-67delinsAC
XM_017009329.1:c.3122-68_3122-67delinsAC	XP_016864818.1:n.3122-68_3122-67delinsAC
XM_017009330.2:c.1505-68_1505-67delinsAC	XP_016864819.1:n.1505-68_1505-67delinsAC
XM_017009331.1:c.1496-68_1496-67delinsAC	XP_016864820.1:n.1496-68_1496-67delinsAC
NM_133433.4:c.3122-68_3122-67delinsAC MANE Select	NP_597677.2:n.3122-68_3122-67delinsAC
NM_015384.5:c.3122-68_3122-67delinsAC	NP_056199.2:n.3122-68_3122-67delinsAC