Canonical Allele Identifier: CA1075099023

Gene: NIPBL

Linked Data

• gnomAD v3: 5-37051774-TCCAGTGTGTGCCA-T
• gnomAD v4: 5-37051774-TCCAGTGTGTGCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051775_37051787del , CM000667.2:g.37051775_37051787del	GRCh38
NC_000005.9:g.37051877_37051889del , CM000667.1:g.37051877_37051889del	GRCh37
NC_000005.8:g.37087634_37087646del	NCBI36
NG_006987.1:g.179893_179905del
NG_006987.2:g.179893_179905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6955-4_6963del
ENST00000652901.1:c.6955-4_6963del
ENST00000282516.12:c.6955-4_6963del
ENST00000448238.2:c.6955-4_6963del
ENST00000514335.1:n.833_845del
ENST00000621733.1:c.1-12803_1-12791del	ENSP00000480694.1:n.1-12803_1-12791del
NM_015384.4:c.6955-4_6963del
NM_133433.3:c.6955-4_6963del
XM_005248280.2:c.6955-4_6963del
XM_005248282.3:c.6211-4_6219del
XM_006714467.2:c.6955-4_6963del
XM_006714468.1:c.6757-4_6765del
XM_011514014.1:c.6574-4_6582del
XM_011514015.1:c.6955-4_6963del
XM_005248280.3:c.6955-4_6963del
XM_005248282.5:c.6295-4_6303del
XM_006714468.2:c.6757-4_6765del
XM_017009329.1:c.6955-4_6963del
XM_017009330.2:c.5338-4_5346del
XM_017009331.1:c.5329-4_5337del
NM_133433.4:c.6955-4_6963del
NM_015384.5:c.6955-4_6963del