Canonical Allele Identifier: CA2673575625

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37051759-A-ATTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051763_37051770dup , CM000667.2:g.37051763_37051770dup	GRCh38
NC_000005.9:g.37051865_37051872dup , CM000667.1:g.37051865_37051872dup	GRCh37
NC_000005.8:g.37087622_37087629dup	NCBI36
NG_006987.1:g.179881_179888dup
NG_006987.2:g.179881_179888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6955-16_6955-9dup MANE Select	ENSP00000282516.8:n.6955-16_6955-9dup
ENST00000652901.1:c.6955-16_6955-9dup	ENSP00000499536.1:n.6955-16_6955-9dup
ENST00000282516.12:c.6955-16_6955-9dup	ENSP00000282516.8:n.6955-16_6955-9dup
ENST00000448238.2:c.6955-16_6955-9dup	ENSP00000406266.2:n.6955-16_6955-9dup
ENST00000514335.1:n.821_828dup
ENST00000621733.1:c.1-12815_1-12808dup	ENSP00000480694.1:n.1-12815_1-12808dup
NM_015384.4:c.6955-16_6955-9dup	NP_056199.2:n.6955-16_6955-9dup
NM_133433.3:c.6955-16_6955-9dup	NP_597677.2:n.6955-16_6955-9dup
XM_005248280.2:c.6955-16_6955-9dup	XP_005248337.1:n.6955-16_6955-9dup
XM_005248282.3:c.6211-16_6211-9dup	XP_005248339.2:n.6211-16_6211-9dup
XM_006714467.2:c.6955-16_6955-9dup	XP_006714530.1:n.6955-16_6955-9dup
XM_006714468.1:c.6757-16_6757-9dup	XP_006714531.1:n.6757-16_6757-9dup
XM_011514014.1:c.6574-16_6574-9dup	XP_011512316.1:n.6574-16_6574-9dup
XM_011514015.1:c.6955-16_6955-9dup	XP_011512317.1:n.6955-16_6955-9dup
XM_005248280.3:c.6955-16_6955-9dup	XP_005248337.1:n.6955-16_6955-9dup
XM_005248282.5:c.6295-16_6295-9dup	XP_005248339.3:n.6295-16_6295-9dup
XM_006714468.2:c.6757-16_6757-9dup	XP_006714531.1:n.6757-16_6757-9dup
XM_017009329.1:c.6955-16_6955-9dup	XP_016864818.1:n.6955-16_6955-9dup
XM_017009330.2:c.5338-16_5338-9dup	XP_016864819.1:n.5338-16_5338-9dup
XM_017009331.1:c.5329-16_5329-9dup	XP_016864820.1:n.5329-16_5329-9dup
NM_133433.4:c.6955-16_6955-9dup MANE Select	NP_597677.2:n.6955-16_6955-9dup
NM_015384.5:c.6955-16_6955-9dup	NP_056199.2:n.6955-16_6955-9dup