Canonical Allele Identifier: CA2673550930

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37003219-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003222_37003223del , CM000667.2:g.37003222_37003223del	GRCh38
NC_000005.9:g.37003324_37003325del , CM000667.1:g.37003324_37003325del	GRCh37
NC_000005.8:g.37039081_37039082del	NCBI36
NG_006987.1:g.131340_131341del
NG_006987.2:g.131340_131341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3769-39_3769-38del MANE Select	ENSP00000282516.8:n.3769-39_3769-38del
ENST00000652901.1:c.3769-39_3769-38del	ENSP00000499536.1:n.3769-39_3769-38del
ENST00000282516.12:c.3769-39_3769-38del	ENSP00000282516.8:n.3769-39_3769-38del
ENST00000448238.2:c.3769-39_3769-38del	ENSP00000406266.2:n.3769-39_3769-38del
ENST00000621733.1:c.1-61356_1-61355del	ENSP00000480694.1:n.1-61356_1-61355del
NM_015384.4:c.3769-39_3769-38del	NP_056199.2:n.3769-39_3769-38del
NM_133433.3:c.3769-39_3769-38del	NP_597677.2:n.3769-39_3769-38del
XM_005248280.2:c.3769-39_3769-38del	XP_005248337.1:n.3769-39_3769-38del
XM_005248282.3:c.3025-39_3025-38del	XP_005248339.2:n.3025-39_3025-38del
XM_006714467.2:c.3769-39_3769-38del	XP_006714530.1:n.3769-39_3769-38del
XM_006714468.1:c.3571-39_3571-38del	XP_006714531.1:n.3571-39_3571-38del
XM_011514014.1:c.3388-39_3388-38del	XP_011512316.1:n.3388-39_3388-38del
XM_011514015.1:c.3769-39_3769-38del	XP_011512317.1:n.3769-39_3769-38del
XM_005248280.3:c.3769-39_3769-38del	XP_005248337.1:n.3769-39_3769-38del
XM_005248282.5:c.3109-39_3109-38del	XP_005248339.3:n.3109-39_3109-38del
XM_006714468.2:c.3571-39_3571-38del	XP_006714531.1:n.3571-39_3571-38del
XM_017009329.1:c.3769-39_3769-38del	XP_016864818.1:n.3769-39_3769-38del
XM_017009330.2:c.2152-39_2152-38del	XP_016864819.1:n.2152-39_2152-38del
XM_017009331.1:c.2143-39_2143-38del	XP_016864820.1:n.2143-39_2143-38del
NM_133433.4:c.3769-39_3769-38del MANE Select	NP_597677.2:n.3769-39_3769-38del
NM_015384.5:c.3769-39_3769-38del	NP_056199.2:n.3769-39_3769-38del