Canonical Allele Identifier: CA2673575764

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37052323-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37052325_37052327dup , CM000667.2:g.37052325_37052327dup	GRCh38
NC_000005.9:g.37052427_37052429dup , CM000667.1:g.37052427_37052429dup	GRCh37
NC_000005.8:g.37088184_37088186dup	NCBI36
NG_006987.1:g.180443_180445dup
NG_006987.2:g.180443_180445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7063-41_7063-39dup MANE Select	ENSP00000282516.8:n.7063-41_7063-39dup
ENST00000652901.1:c.7063-41_7063-39dup	ENSP00000499536.1:n.7063-41_7063-39dup
ENST00000282516.12:c.7063-41_7063-39dup	ENSP00000282516.8:n.7063-41_7063-39dup
ENST00000448238.2:c.7063-41_7063-39dup	ENSP00000406266.2:n.7063-41_7063-39dup
ENST00000514335.1:n.945-41_945-39dup
ENST00000621733.1:c.1-12253_1-12251dup	ENSP00000480694.1:n.1-12253_1-12251dup
NM_015384.4:c.7063-41_7063-39dup	NP_056199.2:n.7063-41_7063-39dup
NM_133433.3:c.7063-41_7063-39dup	NP_597677.2:n.7063-41_7063-39dup
XM_005248280.2:c.7063-41_7063-39dup	XP_005248337.1:n.7063-41_7063-39dup
XM_005248282.3:c.6319-41_6319-39dup	XP_005248339.2:n.6319-41_6319-39dup
XM_006714467.2:c.7063-41_7063-39dup	XP_006714530.1:n.7063-41_7063-39dup
XM_006714468.1:c.6865-41_6865-39dup	XP_006714531.1:n.6865-41_6865-39dup
XM_011514014.1:c.6682-41_6682-39dup	XP_011512316.1:n.6682-41_6682-39dup
XM_011514015.1:c.7063-41_7063-39dup	XP_011512317.1:n.7063-41_7063-39dup
XM_005248280.3:c.7063-41_7063-39dup	XP_005248337.1:n.7063-41_7063-39dup
XM_005248282.5:c.6403-41_6403-39dup	XP_005248339.3:n.6403-41_6403-39dup
XM_006714468.2:c.6865-41_6865-39dup	XP_006714531.1:n.6865-41_6865-39dup
XM_017009329.1:c.7063-41_7063-39dup	XP_016864818.1:n.7063-41_7063-39dup
XM_017009330.2:c.5446-41_5446-39dup	XP_016864819.1:n.5446-41_5446-39dup
XM_017009331.1:c.5437-41_5437-39dup	XP_016864820.1:n.5437-41_5437-39dup
NM_133433.4:c.7063-41_7063-39dup MANE Select	NP_597677.2:n.7063-41_7063-39dup
NM_015384.5:c.7063-41_7063-39dup	NP_056199.2:n.7063-41_7063-39dup