Canonical Allele Identifier: CA2673574359

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995901-TCACCTTAATTCTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995902_36995915del , CM000667.2:g.36995902_36995915del	GRCh38
NC_000005.9:g.36996004_36996017del , CM000667.1:g.36996004_36996017del	GRCh37
NC_000005.8:g.37031761_37031774del	NCBI36
NG_006987.1:g.124020_124033del
NG_006987.2:g.124020_124033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+98_3304+111del MANE Select	ENSP00000282516.8:n.3304+98_3304+111del
ENST00000652901.1:c.3304+98_3304+111del	ENSP00000499536.1:n.3304+98_3304+111del
ENST00000282516.12:c.3304+98_3304+111del	ENSP00000282516.8:n.3304+98_3304+111del
ENST00000448238.2:c.3304+98_3304+111del	ENSP00000406266.2:n.3304+98_3304+111del
ENST00000503274.1:n.655+98_655+111del
ENST00000504430.5:n.2924+98_2924+111del
ENST00000509429.1:n.55+98_55+111del
ENST00000621733.1:c.1-68676_1-68663del	ENSP00000480694.1:n.1-68676_1-68663del
NM_015384.4:c.3304+98_3304+111del	NP_056199.2:n.3304+98_3304+111del
NM_133433.3:c.3304+98_3304+111del	NP_597677.2:n.3304+98_3304+111del
XM_005248280.2:c.3304+98_3304+111del	XP_005248337.1:n.3304+98_3304+111del
XM_005248282.3:c.2560+98_2560+111del	XP_005248339.2:n.2560+98_2560+111del
XM_006714467.2:c.3304+98_3304+111del	XP_006714530.1:n.3304+98_3304+111del
XM_006714468.1:c.3304+98_3304+111del	XP_006714531.1:n.3304+98_3304+111del
XM_011514014.1:c.3122-4915_3122-4902del	XP_011512316.1:n.3122-4915_3122-4902del
XM_011514015.1:c.3304+98_3304+111del	XP_011512317.1:n.3304+98_3304+111del
XM_005248280.3:c.3304+98_3304+111del	XP_005248337.1:n.3304+98_3304+111del
XM_005248282.5:c.2644+98_2644+111del	XP_005248339.3:n.2644+98_2644+111del
XM_006714468.2:c.3304+98_3304+111del	XP_006714531.1:n.3304+98_3304+111del
XM_017009329.1:c.3304+98_3304+111del	XP_016864818.1:n.3304+98_3304+111del
XM_017009330.2:c.1687+98_1687+111del	XP_016864819.1:n.1687+98_1687+111del
XM_017009331.1:c.1678+98_1678+111del	XP_016864820.1:n.1678+98_1678+111del
NM_133433.4:c.3304+98_3304+111del MANE Select	NP_597677.2:n.3304+98_3304+111del
NM_015384.5:c.3304+98_3304+111del	NP_056199.2:n.3304+98_3304+111del