Canonical Allele Identifier: CA2673575618

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37051759-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37051770_37051771insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.37051770_37051771insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.37051872_37051873insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.37051872_37051873insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.37087629_37087630insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_006987.1:g.179888_179889insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_006987.2:g.179888_179889insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000282516.8:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000652901.1:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000499536.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000282516.12:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000282516.8:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000448238.2:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000406266.2:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000514335.1:n.828_829insTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000621733.1:c.1-12808_1-12807insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000480694.1:n.1-12808_1-12807insTTTTTTTTTTTTTTTTTTTTTTT...
NM_015384.4:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_056199.2:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_133433.3:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_597677.2:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248280.2:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248337.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248282.3:c.6211-9_6211-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248339.2:n.6211-9_6211-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_006714467.2:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006714530.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_006714468.1:c.6757-9_6757-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006714531.1:n.6757-9_6757-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_011514014.1:c.6574-9_6574-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512316.1:n.6574-9_6574-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_011514015.1:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011512317.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248280.3:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248337.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005248282.5:c.6295-9_6295-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248339.3:n.6295-9_6295-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_006714468.2:c.6757-9_6757-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006714531.1:n.6757-9_6757-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_017009329.1:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864818.1:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_017009330.2:c.5338-9_5338-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864819.1:n.5338-9_5338-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_017009331.1:c.5329-9_5329-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016864820.1:n.5329-9_5329-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_133433.4:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_597677.2:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_015384.5:c.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_056199.2:n.6955-9_6955-8insTTTTTTTTTTTTTTTTTTTTTTTTTTT