Canonical Allele Identifier: CA2673574339

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995880-G-GATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995880_36995881insATAC , CM000667.2:g.36995880_36995881insATAC	GRCh38
NC_000005.9:g.36995982_36995983insATAC , CM000667.1:g.36995982_36995983insATAC	GRCh37
NC_000005.8:g.37031739_37031740insATAC	NCBI36
NG_006987.1:g.123998_123999insATAC
NG_006987.2:g.123998_123999insATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+76_3304+77insATAC MANE Select	ENSP00000282516.8:n.3304+76_3304+77insATAC
ENST00000652901.1:c.3304+76_3304+77insATAC	ENSP00000499536.1:n.3304+76_3304+77insATAC
ENST00000282516.12:c.3304+76_3304+77insATAC	ENSP00000282516.8:n.3304+76_3304+77insATAC
ENST00000448238.2:c.3304+76_3304+77insATAC	ENSP00000406266.2:n.3304+76_3304+77insATAC
ENST00000503274.1:n.655+76_655+77insATAC
ENST00000504430.5:n.2924+76_2924+77insATAC
ENST00000509429.1:n.55+76_55+77insATAC
ENST00000621733.1:c.1-68698_1-68697insATAC	ENSP00000480694.1:n.1-68698_1-68697insATAC
NM_015384.4:c.3304+76_3304+77insATAC	NP_056199.2:n.3304+76_3304+77insATAC
NM_133433.3:c.3304+76_3304+77insATAC	NP_597677.2:n.3304+76_3304+77insATAC
XM_005248280.2:c.3304+76_3304+77insATAC	XP_005248337.1:n.3304+76_3304+77insATAC
XM_005248282.3:c.2560+76_2560+77insATAC	XP_005248339.2:n.2560+76_2560+77insATAC
XM_006714467.2:c.3304+76_3304+77insATAC	XP_006714530.1:n.3304+76_3304+77insATAC
XM_006714468.1:c.3304+76_3304+77insATAC	XP_006714531.1:n.3304+76_3304+77insATAC
XM_011514014.1:c.3122-4937_3122-4936insATAC	XP_011512316.1:n.3122-4937_3122-4936insATAC
XM_011514015.1:c.3304+76_3304+77insATAC	XP_011512317.1:n.3304+76_3304+77insATAC
XM_005248280.3:c.3304+76_3304+77insATAC	XP_005248337.1:n.3304+76_3304+77insATAC
XM_005248282.5:c.2644+76_2644+77insATAC	XP_005248339.3:n.2644+76_2644+77insATAC
XM_006714468.2:c.3304+76_3304+77insATAC	XP_006714531.1:n.3304+76_3304+77insATAC
XM_017009329.1:c.3304+76_3304+77insATAC	XP_016864818.1:n.3304+76_3304+77insATAC
XM_017009330.2:c.1687+76_1687+77insATAC	XP_016864819.1:n.1687+76_1687+77insATAC
XM_017009331.1:c.1678+76_1678+77insATAC	XP_016864820.1:n.1678+76_1678+77insATAC
NM_133433.4:c.3304+76_3304+77insATAC MANE Select	NP_597677.2:n.3304+76_3304+77insATAC
NM_015384.5:c.3304+76_3304+77insATAC	NP_056199.2:n.3304+76_3304+77insATAC