Canonical Allele Identifier: CA2673552508

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36958143-T-TGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958144_36958146dup , CM000667.2:g.36958144_36958146dup	GRCh38
NC_000005.9:g.36958246_36958248dup , CM000667.1:g.36958246_36958248dup	GRCh37
NC_000005.8:g.36994003_36994005dup	NCBI36
NG_006987.1:g.86262_86264dup
NG_006987.2:g.86262_86264dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.271_273dup MANE Select	ENSP00000282516.8:p.Asp91_Ile92insAsp
ENST00000652901.1:c.271_273dup	ENSP00000499536.1:p.Asp91_Ile92insAsp
ENST00000282516.12:c.271_273dup	ENSP00000282516.8:p.Asp91_Ile92insAsp
ENST00000448238.2:c.271_273dup	ENSP00000406266.2:p.Asp91_Ile92insAsp
ENST00000505998.5:n.250_252dup
ENST00000621733.1:c.-1+81122_-1+81124dup	ENSP00000480694.1:n.-1+81122_-1+81124dup
NM_015384.4:c.271_273dup	NP_056199.2:p.Asp91_Ile92insAsp
NM_133433.3:c.271_273dup	NP_597677.2:p.Asp91_Ile92insAsp
XM_005248280.2:c.271_273dup	XP_005248337.1:p.Asp91_Ile92insAsp
XM_006714467.2:c.271_273dup	XP_006714530.1:p.Asp91_Ile92insAsp
XM_006714468.1:c.271_273dup	XP_006714531.1:p.Asp91_Ile92insAsp
XM_011514014.1:c.271_273dup	XP_011512316.1:p.Asp91_Ile92insAsp
XM_011514015.1:c.271_273dup	XP_011512317.1:p.Asp91_Ile92insAsp
XM_005248280.3:c.271_273dup	XP_005248337.1:p.Asp91_Ile92insAsp
XM_006714468.2:c.271_273dup	XP_006714531.1:p.Asp91_Ile92insAsp
XM_017009329.1:c.271_273dup	XP_016864818.1:p.Asp91_Ile92insAsp
XM_017009331.1:c.271_273dup	XP_016864820.1:p.Asp91_Ile92insAsp
NM_133433.4:c.271_273dup MANE Select	NP_597677.2:p.Asp91_Ile92insAsp
NM_015384.5:c.271_273dup	NP_056199.2:p.Asp91_Ile92insAsp