Canonical Allele Identifier: CA2673574215

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995389-ATGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995395_36995397del , CM000667.2:g.36995395_36995397del	GRCh38
NC_000005.9:g.36995497_36995499del , CM000667.1:g.36995497_36995499del	GRCh37
NC_000005.8:g.37031254_37031256del	NCBI36
NG_006987.1:g.123513_123515del
NG_006987.2:g.123513_123515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-227_3122-225del MANE Select	ENSP00000282516.8:n.3122-227_3122-225del
ENST00000652901.1:c.3122-227_3122-225del	ENSP00000499536.1:n.3122-227_3122-225del
ENST00000282516.12:c.3122-227_3122-225del	ENSP00000282516.8:n.3122-227_3122-225del
ENST00000448238.2:c.3122-227_3122-225del	ENSP00000406266.2:n.3122-227_3122-225del
ENST00000503274.1:n.246_248del
ENST00000504430.5:n.2742-227_2742-225del
ENST00000621733.1:c.1-69183_1-69181del	ENSP00000480694.1:n.1-69183_1-69181del
NM_015384.4:c.3122-227_3122-225del	NP_056199.2:n.3122-227_3122-225del
NM_133433.3:c.3122-227_3122-225del	NP_597677.2:n.3122-227_3122-225del
XM_005248280.2:c.3122-227_3122-225del	XP_005248337.1:n.3122-227_3122-225del
XM_005248282.3:c.2378-227_2378-225del	XP_005248339.2:n.2378-227_2378-225del
XM_006714467.2:c.3122-227_3122-225del	XP_006714530.1:n.3122-227_3122-225del
XM_006714468.1:c.3122-227_3122-225del	XP_006714531.1:n.3122-227_3122-225del
XM_011514014.1:c.3122-5422_3122-5420del	XP_011512316.1:n.3122-5422_3122-5420del
XM_011514015.1:c.3122-227_3122-225del	XP_011512317.1:n.3122-227_3122-225del
XM_005248280.3:c.3122-227_3122-225del	XP_005248337.1:n.3122-227_3122-225del
XM_005248282.5:c.2462-227_2462-225del	XP_005248339.3:n.2462-227_2462-225del
XM_006714468.2:c.3122-227_3122-225del	XP_006714531.1:n.3122-227_3122-225del
XM_017009329.1:c.3122-227_3122-225del	XP_016864818.1:n.3122-227_3122-225del
XM_017009330.2:c.1505-227_1505-225del	XP_016864819.1:n.1505-227_1505-225del
XM_017009331.1:c.1496-227_1496-225del	XP_016864820.1:n.1496-227_1496-225del
NM_133433.4:c.3122-227_3122-225del MANE Select	NP_597677.2:n.3122-227_3122-225del
NM_015384.5:c.3122-227_3122-225del	NP_056199.2:n.3122-227_3122-225del