Canonical Allele Identifier: CA2549411549

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052494_37052498del , CM000667.2:g.37052494_37052498del	GRCh38
NC_000005.9:g.37052596_37052600del , CM000667.1:g.37052596_37052600del	GRCh37
NC_000005.8:g.37088353_37088357del	NCBI36
NG_006987.1:g.180612_180616del
NG_006987.2:g.180612_180616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7191_7195del MANE Select	ENSP00000282516.8:p.Met2398ProfsTer19
ENST00000652901.1:c.7191_7195del	ENSP00000499536.1:p.Met2398ProfsTer19
ENST00000282516.12:c.7191_7195del	ENSP00000282516.8:p.Met2398ProfsTer19
ENST00000448238.2:c.7191_7195del	ENSP00000406266.2:p.Met2398ProfsTer19
ENST00000514335.1:n.1073_1077del
ENST00000621733.1:c.1-12084_1-12080del	ENSP00000480694.1:n.1-12084_1-12080del
NM_015384.4:c.7191_7195del	NP_056199.2:p.Met2398ProfsTer19
NM_133433.3:c.7191_7195del	NP_597677.2:p.Met2398ProfsTer19
XM_005248280.2:c.7191_7195del	XP_005248337.1:p.Met2398ProfsTer19
XM_005248282.3:c.6447_6451del	XP_005248339.2:p.Met2150ProfsTer19
XM_006714467.2:c.7191_7195del	XP_006714530.1:p.Met2398ProfsTer19
XM_006714468.1:c.6993_6997del	XP_006714531.1:p.Met2332ProfsTer19
XM_011514014.1:c.6810_6814del	XP_011512316.1:p.Met2271ProfsTer19
XM_011514015.1:c.7191_7195del	XP_011512317.1:p.Met2398ProfsTer19
XM_005248280.3:c.7191_7195del	XP_005248337.1:p.Met2398ProfsTer19
XM_005248282.5:c.6531_6535del	XP_005248339.3:p.Met2178ProfsTer19
XM_006714468.2:c.6993_6997del	XP_006714531.1:p.Met2332ProfsTer19
XM_017009329.1:c.7191_7195del	XP_016864818.1:p.Met2398ProfsTer19
XM_017009330.2:c.5574_5578del	XP_016864819.1:p.Met1859ProfsTer19
XM_017009331.1:c.5565_5569del	XP_016864820.1:p.Met1856ProfsTer19
NM_133433.4:c.7191_7195del MANE Select	NP_597677.2:p.Met2398ProfsTer19
NM_015384.5:c.7191_7195del	NP_056199.2:p.Met2398ProfsTer19