Canonical Allele Identifier: CA117043150

Gene: NIPBL

Linked Data

• dbSNP Id: rs768182346
• MyVariant Identifiers: chr5:g.36984696_36984697insT (hg19) ; chr5:g.36984594_36984595insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36984594_36984595insT , CM000667.2:g.36984594_36984595insT	GRCh38
NC_000005.9:g.36984696_36984697insT , CM000667.1:g.36984696_36984697insT	GRCh37
NC_000005.8:g.37020453_37020454insT	NCBI36
NG_006987.1:g.112712_112713insT
NG_006987.2:g.112712_112713insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.1496-82_1496-81insT MANE Select	ENSP00000282516.8:n.1496-82_1496-81insT
ENST00000652901.1:c.1496-82_1496-81insT	ENSP00000499536.1:n.1496-82_1496-81insT
ENST00000282516.12:c.1496-82_1496-81insT	ENSP00000282516.8:n.1496-82_1496-81insT
ENST00000448238.2:c.1496-82_1496-81insT	ENSP00000406266.2:n.1496-82_1496-81insT
ENST00000504430.5:n.1116-82_1116-81insT
ENST00000621733.1:c.1-79984_1-79983insT	ENSP00000480694.1:n.1-79984_1-79983insT
NM_015384.4:c.1496-82_1496-81insT	NP_056199.2:n.1496-82_1496-81insT
NM_133433.3:c.1496-82_1496-81insT	NP_597677.2:n.1496-82_1496-81insT
XM_005248280.2:c.1496-82_1496-81insT	XP_005248337.1:n.1496-82_1496-81insT
XM_005248282.3:c.752-82_752-81insT	XP_005248339.2:n.752-82_752-81insT
XM_006714467.2:c.1496-82_1496-81insT	XP_006714530.1:n.1496-82_1496-81insT
XM_006714468.1:c.1496-82_1496-81insT	XP_006714531.1:n.1496-82_1496-81insT
XM_011514014.1:c.1496-82_1496-81insT	XP_011512316.1:n.1496-82_1496-81insT
XM_011514015.1:c.1496-82_1496-81insT	XP_011512317.1:n.1496-82_1496-81insT
XM_005248280.3:c.1496-82_1496-81insT	XP_005248337.1:n.1496-82_1496-81insT
XM_005248282.5:c.836-82_836-81insT	XP_005248339.3:n.836-82_836-81insT
XM_006714468.2:c.1496-82_1496-81insT	XP_006714531.1:n.1496-82_1496-81insT
XM_017009329.1:c.1496-82_1496-81insT	XP_016864818.1:n.1496-82_1496-81insT
XM_017009330.2:c.-122-82_-122-81insT	XP_016864819.1:n.-122-82_-122-81insT
XM_017009331.1:c.1495+8192_1495+8193insT	XP_016864820.1:n.1495+8192_1495+8193insT
NM_133433.4:c.1496-82_1496-81insT MANE Select	NP_597677.2:n.1496-82_1496-81insT
NM_015384.5:c.1496-82_1496-81insT	NP_056199.2:n.1496-82_1496-81insT