Canonical Allele Identifier: CA2673582104

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36985914-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985917_36985919del , CM000667.2:g.36985917_36985919del	GRCh38
NC_000005.9:g.36986019_36986021del , CM000667.1:g.36986019_36986021del	GRCh37
NC_000005.8:g.37021776_37021778del	NCBI36
NG_006987.1:g.114035_114037del
NG_006987.2:g.114035_114037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2737_2739del MANE Select	ENSP00000282516.8:p.Pro913del
ENST00000652901.1:c.2737_2739del	ENSP00000499536.1:p.Pro913del
ENST00000282516.12:c.2737_2739del	ENSP00000282516.8:p.Pro913del
ENST00000448238.2:c.2737_2739del	ENSP00000406266.2:p.Pro913del
ENST00000504430.5:n.2357_2359del
ENST00000621733.1:c.1-78661_1-78659del	ENSP00000480694.1:n.1-78661_1-78659del
NM_015384.4:c.2737_2739del	NP_056199.2:p.Pro913del
NM_133433.3:c.2737_2739del	NP_597677.2:p.Pro913del
XM_005248280.2:c.2737_2739del	XP_005248337.1:p.Pro913del
XM_005248282.3:c.1993_1995del	XP_005248339.2:p.Pro665del
XM_006714467.2:c.2737_2739del	XP_006714530.1:p.Pro913del
XM_006714468.1:c.2737_2739del	XP_006714531.1:p.Pro913del
XM_011514014.1:c.2737_2739del	XP_011512316.1:p.Pro913del
XM_011514015.1:c.2737_2739del	XP_011512317.1:p.Pro913del
XM_005248280.3:c.2737_2739del	XP_005248337.1:p.Pro913del
XM_005248282.5:c.2077_2079del	XP_005248339.3:p.Pro693del
XM_006714468.2:c.2737_2739del	XP_006714531.1:p.Pro913del
XM_017009329.1:c.2737_2739del	XP_016864818.1:p.Pro913del
XM_017009330.2:c.1120_1122del	XP_016864819.1:p.Pro374del
XM_017009331.1:c.1495+9515_1495+9517del	XP_016864820.1:n.1495+9515_1495+9517del
NM_133433.4:c.2737_2739del MANE Select	NP_597677.2:p.Pro913del
NM_015384.5:c.2737_2739del	NP_056199.2:p.Pro913del