Canonical Allele Identifier: CA2673575898

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37057121-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37057122_37057123del , CM000667.2:g.37057122_37057123del	GRCh38
NC_000005.9:g.37057224_37057225del , CM000667.1:g.37057224_37057225del	GRCh37
NC_000005.8:g.37092981_37092982del	NCBI36
NG_006987.1:g.185240_185241del
NG_006987.2:g.185240_185241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.7264-64_7264-63del MANE Select	ENSP00000282516.8:n.7264-64_7264-63del
ENST00000652901.1:c.7264-1769_7264-1768del	ENSP00000499536.1:n.7264-1769_7264-1768de...
ENST00000282516.12:c.7264-64_7264-63del	ENSP00000282516.8:n.7264-64_7264-63del
ENST00000448238.2:c.7264-64_7264-63del	ENSP00000406266.2:n.7264-64_7264-63del
ENST00000514335.1:n.1146-64_1146-63del
ENST00000621733.1:c.1-7456_1-7455del	ENSP00000480694.1:n.1-7456_1-7455del
NM_015384.4:c.7264-64_7264-63del	NP_056199.2:n.7264-64_7264-63del
NM_133433.3:c.7264-64_7264-63del	NP_597677.2:n.7264-64_7264-63del
XM_005248280.2:c.7264-64_7264-63del	XP_005248337.1:n.7264-64_7264-63del
XM_005248282.3:c.6520-64_6520-63del	XP_005248339.2:n.6520-64_6520-63del
XM_006714467.2:c.7264-1769_7264-1768del	XP_006714530.1:n.7264-1769_7264-1768del
XM_006714468.1:c.7066-64_7066-63del	XP_006714531.1:n.7066-64_7066-63del
XM_011514014.1:c.6883-64_6883-63del	XP_011512316.1:n.6883-64_6883-63del
XM_011514015.1:c.7264-3722_7264-3721del	XP_011512317.1:n.7264-3722_7264-3721del
XM_005248280.3:c.7264-64_7264-63del	XP_005248337.1:n.7264-64_7264-63del
XM_005248282.5:c.6604-64_6604-63del	XP_005248339.3:n.6604-64_6604-63del
XM_006714468.2:c.7066-64_7066-63del	XP_006714531.1:n.7066-64_7066-63del
XM_017009329.1:c.7264-1769_7264-1768del	XP_016864818.1:n.7264-1769_7264-1768del
XM_017009330.2:c.5647-64_5647-63del	XP_016864819.1:n.5647-64_5647-63del
XM_017009331.1:c.5638-64_5638-63del	XP_016864820.1:n.5638-64_5638-63del
NM_133433.4:c.7264-64_7264-63del MANE Select	NP_597677.2:n.7264-64_7264-63del
NM_015384.5:c.7264-64_7264-63del	NP_056199.2:n.7264-64_7264-63del