Canonical Allele Identifier: CA2840181733

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001063_37001064del , CM000667.2:g.37001063_37001064del	GRCh38
NC_000005.9:g.37001165_37001166del , CM000667.1:g.37001165_37001166del	GRCh37
NC_000005.8:g.37036922_37036923del	NCBI36
NG_006987.1:g.129181_129182del
NG_006987.2:g.129181_129182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3649_3650del MANE Select	ENSP00000282516.8:p.Asp1217PhefsTer6
ENST00000652901.1:c.3649_3650del	ENSP00000499536.1:p.Asp1217PhefsTer6
ENST00000282516.12:c.3649_3650del	ENSP00000282516.8:p.Asp1217PhefsTer6
ENST00000448238.2:c.3649_3650del	ENSP00000406266.2:p.Asp1217PhefsTer6
ENST00000621733.1:c.1-63515_1-63514del	ENSP00000480694.1:n.1-63515_1-63514del
NM_015384.4:c.3649_3650del	NP_056199.2:p.Asp1217PhefsTer6
NM_133433.3:c.3649_3650del	NP_597677.2:p.Asp1217PhefsTer6
XM_005248280.2:c.3649_3650del	XP_005248337.1:p.Asp1217PhefsTer6
XM_005248282.3:c.2905_2906del	XP_005248339.2:p.Asp969PhefsTer6
XM_006714467.2:c.3649_3650del	XP_006714530.1:p.Asp1217PhefsTer6
XM_006714468.1:c.3451_3452del	XP_006714531.1:p.Asp1151PhefsTer6
XM_011514014.1:c.3268_3269del	XP_011512316.1:p.Asp1090PhefsTer6
XM_011514015.1:c.3649_3650del	XP_011512317.1:p.Asp1217PhefsTer6
XM_005248280.3:c.3649_3650del	XP_005248337.1:p.Asp1217PhefsTer6
XM_005248282.5:c.2989_2990del	XP_005248339.3:p.Asp997PhefsTer6
XM_006714468.2:c.3451_3452del	XP_006714531.1:p.Asp1151PhefsTer6
XM_017009329.1:c.3649_3650del	XP_016864818.1:p.Asp1217PhefsTer6
XM_017009330.2:c.2032_2033del	XP_016864819.1:p.Asp678PhefsTer6
XM_017009331.1:c.2023_2024del	XP_016864820.1:p.Asp675PhefsTer6
NM_133433.4:c.3649_3650del MANE Select	NP_597677.2:p.Asp1217PhefsTer6
NM_015384.5:c.3649_3650del	NP_056199.2:p.Asp1217PhefsTer6