Canonical Allele Identifier: CA2673582057

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36984548-TATTTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984559_36984564del , CM000667.2:g.36984559_36984564del	GRCh38
NC_000005.9:g.36984661_36984666del , CM000667.1:g.36984661_36984666del	GRCh37
NC_000005.8:g.37020418_37020423del	NCBI36
NG_006987.1:g.112677_112682del
NG_006987.2:g.112677_112682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1496-117_1496-112del MANE Select	ENSP00000282516.8:n.1496-117_1496-112del
ENST00000652901.1:c.1496-117_1496-112del	ENSP00000499536.1:n.1496-117_1496-112del
ENST00000282516.12:c.1496-117_1496-112del	ENSP00000282516.8:n.1496-117_1496-112del
ENST00000448238.2:c.1496-117_1496-112del	ENSP00000406266.2:n.1496-117_1496-112del
ENST00000504430.5:n.1116-117_1116-112del
ENST00000621733.1:c.1-80019_1-80014del	ENSP00000480694.1:n.1-80019_1-80014del
NM_015384.4:c.1496-117_1496-112del	NP_056199.2:n.1496-117_1496-112del
NM_133433.3:c.1496-117_1496-112del	NP_597677.2:n.1496-117_1496-112del
XM_005248280.2:c.1496-117_1496-112del	XP_005248337.1:n.1496-117_1496-112del
XM_005248282.3:c.752-117_752-112del	XP_005248339.2:n.752-117_752-112del
XM_006714467.2:c.1496-117_1496-112del	XP_006714530.1:n.1496-117_1496-112del
XM_006714468.1:c.1496-117_1496-112del	XP_006714531.1:n.1496-117_1496-112del
XM_011514014.1:c.1496-117_1496-112del	XP_011512316.1:n.1496-117_1496-112del
XM_011514015.1:c.1496-117_1496-112del	XP_011512317.1:n.1496-117_1496-112del
XM_005248280.3:c.1496-117_1496-112del	XP_005248337.1:n.1496-117_1496-112del
XM_005248282.5:c.836-117_836-112del	XP_005248339.3:n.836-117_836-112del
XM_006714468.2:c.1496-117_1496-112del	XP_006714531.1:n.1496-117_1496-112del
XM_017009329.1:c.1496-117_1496-112del	XP_016864818.1:n.1496-117_1496-112del
XM_017009330.2:c.-122-117_-122-112del	XP_016864819.1:n.-122-117_-122-112del
XM_017009331.1:c.1495+8157_1495+8162del	XP_016864820.1:n.1495+8157_1495+8162del
NM_133433.4:c.1496-117_1496-112del MANE Select	NP_597677.2:n.1496-117_1496-112del
NM_015384.5:c.1496-117_1496-112del	NP_056199.2:n.1496-117_1496-112del