Canonical Allele Identifier: CA2673574367

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995913-TTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995917_36995919del , CM000667.2:g.36995917_36995919del	GRCh38
NC_000005.9:g.36996019_36996021del , CM000667.1:g.36996019_36996021del	GRCh37
NC_000005.8:g.37031776_37031778del	NCBI36
NG_006987.1:g.124035_124037del
NG_006987.2:g.124035_124037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+113_3304+115del MANE Select	ENSP00000282516.8:n.3304+113_3304+115del
ENST00000652901.1:c.3304+113_3304+115del	ENSP00000499536.1:n.3304+113_3304+115del
ENST00000282516.12:c.3304+113_3304+115del	ENSP00000282516.8:n.3304+113_3304+115del
ENST00000448238.2:c.3304+113_3304+115del	ENSP00000406266.2:n.3304+113_3304+115del
ENST00000503274.1:n.655+113_655+115del
ENST00000504430.5:n.2924+113_2924+115del
ENST00000509429.1:n.55+113_55+115del
ENST00000621733.1:c.1-68661_1-68659del	ENSP00000480694.1:n.1-68661_1-68659del
NM_015384.4:c.3304+113_3304+115del	NP_056199.2:n.3304+113_3304+115del
NM_133433.3:c.3304+113_3304+115del	NP_597677.2:n.3304+113_3304+115del
XM_005248280.2:c.3304+113_3304+115del	XP_005248337.1:n.3304+113_3304+115del
XM_005248282.3:c.2560+113_2560+115del	XP_005248339.2:n.2560+113_2560+115del
XM_006714467.2:c.3304+113_3304+115del	XP_006714530.1:n.3304+113_3304+115del
XM_006714468.1:c.3304+113_3304+115del	XP_006714531.1:n.3304+113_3304+115del
XM_011514014.1:c.3122-4900_3122-4898del	XP_011512316.1:n.3122-4900_3122-4898del
XM_011514015.1:c.3304+113_3304+115del	XP_011512317.1:n.3304+113_3304+115del
XM_005248280.3:c.3304+113_3304+115del	XP_005248337.1:n.3304+113_3304+115del
XM_005248282.5:c.2644+113_2644+115del	XP_005248339.3:n.2644+113_2644+115del
XM_006714468.2:c.3304+113_3304+115del	XP_006714531.1:n.3304+113_3304+115del
XM_017009329.1:c.3304+113_3304+115del	XP_016864818.1:n.3304+113_3304+115del
XM_017009330.2:c.1687+113_1687+115del	XP_016864819.1:n.1687+113_1687+115del
XM_017009331.1:c.1678+113_1678+115del	XP_016864820.1:n.1678+113_1678+115del
NM_133433.4:c.3304+113_3304+115del MANE Select	NP_597677.2:n.3304+113_3304+115del
NM_015384.5:c.3304+113_3304+115del	NP_056199.2:n.3304+113_3304+115del