Canonical Allele Identifier: CA2566938241

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052506_37052510del , CM000667.2:g.37052506_37052510del	GRCh38
NC_000005.9:g.37052608_37052612del , CM000667.1:g.37052608_37052612del	GRCh37
NC_000005.8:g.37088365_37088369del	NCBI36
NG_006987.1:g.180624_180628del
NG_006987.2:g.180624_180628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7203_7207del MANE Select	ENSP00000282516.8:p.Asn2402ProfsTer15
ENST00000652901.1:c.7203_7207del	ENSP00000499536.1:p.Asn2402ProfsTer15
ENST00000282516.12:c.7203_7207del	ENSP00000282516.8:p.Asn2402ProfsTer15
ENST00000448238.2:c.7203_7207del	ENSP00000406266.2:p.Asn2402ProfsTer15
ENST00000514335.1:n.1085_1089del
ENST00000621733.1:c.1-12072_1-12068del	ENSP00000480694.1:n.1-12072_1-12068del
NM_015384.4:c.7203_7207del	NP_056199.2:p.Asn2402ProfsTer15
NM_133433.3:c.7203_7207del	NP_597677.2:p.Asn2402ProfsTer15
XM_005248280.2:c.7203_7207del	XP_005248337.1:p.Asn2402ProfsTer15
XM_005248282.3:c.6459_6463del	XP_005248339.2:p.Asn2154ProfsTer15
XM_006714467.2:c.7203_7207del	XP_006714530.1:p.Asn2402ProfsTer15
XM_006714468.1:c.7005_7009del	XP_006714531.1:p.Asn2336ProfsTer15
XM_011514014.1:c.6822_6826del	XP_011512316.1:p.Asn2275ProfsTer15
XM_011514015.1:c.7203_7207del	XP_011512317.1:p.Asn2402ProfsTer15
XM_005248280.3:c.7203_7207del	XP_005248337.1:p.Asn2402ProfsTer15
XM_005248282.5:c.6543_6547del	XP_005248339.3:p.Asn2182ProfsTer15
XM_006714468.2:c.7005_7009del	XP_006714531.1:p.Asn2336ProfsTer15
XM_017009329.1:c.7203_7207del	XP_016864818.1:p.Asn2402ProfsTer15
XM_017009330.2:c.5586_5590del	XP_016864819.1:p.Asn1863ProfsTer15
XM_017009331.1:c.5577_5581del	XP_016864820.1:p.Asn1860ProfsTer15
NM_133433.4:c.7203_7207del MANE Select	NP_597677.2:p.Asn2402ProfsTer15
NM_015384.5:c.7203_7207del	NP_056199.2:p.Asn2402ProfsTer15