Canonical Allele Identifier: CA2673582084

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36984596-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984597_36984598insTTT , CM000667.2:g.36984597_36984598insTTT	GRCh38
NC_000005.9:g.36984699_36984700insTTT , CM000667.1:g.36984699_36984700insTTT	GRCh37
NC_000005.8:g.37020456_37020457insTTT	NCBI36
NG_006987.1:g.112715_112716insTTT
NG_006987.2:g.112715_112716insTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.1496-79_1496-78insTTT MANE Select	ENSP00000282516.8:n.1496-79_1496-78insTTT
ENST00000652901.1:c.1496-79_1496-78insTTT	ENSP00000499536.1:n.1496-79_1496-78insTTT
ENST00000282516.12:c.1496-79_1496-78insTTT	ENSP00000282516.8:n.1496-79_1496-78insTTT
ENST00000448238.2:c.1496-79_1496-78insTTT	ENSP00000406266.2:n.1496-79_1496-78insTTT
ENST00000504430.5:n.1116-79_1116-78insTTT
ENST00000621733.1:c.1-79981_1-79980insTTT	ENSP00000480694.1:n.1-79981_1-79980insTTT
NM_015384.4:c.1496-79_1496-78insTTT	NP_056199.2:n.1496-79_1496-78insTTT
NM_133433.3:c.1496-79_1496-78insTTT	NP_597677.2:n.1496-79_1496-78insTTT
XM_005248280.2:c.1496-79_1496-78insTTT	XP_005248337.1:n.1496-79_1496-78insTTT
XM_005248282.3:c.752-79_752-78insTTT	XP_005248339.2:n.752-79_752-78insTTT
XM_006714467.2:c.1496-79_1496-78insTTT	XP_006714530.1:n.1496-79_1496-78insTTT
XM_006714468.1:c.1496-79_1496-78insTTT	XP_006714531.1:n.1496-79_1496-78insTTT
XM_011514014.1:c.1496-79_1496-78insTTT	XP_011512316.1:n.1496-79_1496-78insTTT
XM_011514015.1:c.1496-79_1496-78insTTT	XP_011512317.1:n.1496-79_1496-78insTTT
XM_005248280.3:c.1496-79_1496-78insTTT	XP_005248337.1:n.1496-79_1496-78insTTT
XM_005248282.5:c.836-79_836-78insTTT	XP_005248339.3:n.836-79_836-78insTTT
XM_006714468.2:c.1496-79_1496-78insTTT	XP_006714531.1:n.1496-79_1496-78insTTT
XM_017009329.1:c.1496-79_1496-78insTTT	XP_016864818.1:n.1496-79_1496-78insTTT
XM_017009330.2:c.-122-79_-122-78insTTT	XP_016864819.1:n.-122-79_-122-78insTTT
XM_017009331.1:c.1495+8195_1495+8196insTTT	XP_016864820.1:n.1495+8195_1495+8196insTTT
NM_133433.4:c.1496-79_1496-78insTTT MANE Select	NP_597677.2:n.1496-79_1496-78insTTT
NM_015384.5:c.1496-79_1496-78insTTT	NP_056199.2:n.1496-79_1496-78insTTT