Canonical Allele Identifier: CA2708536854

Gene: NIPBL

Linked Data

• dbSNP Id: rs2149755191

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37060663_37060673del , CM000667.2:g.37060663_37060673del	GRCh38
NC_000005.9:g.37060765_37060775del , CM000667.1:g.37060765_37060775del	GRCh37
NC_000005.8:g.37096522_37096532del	NCBI36
NG_006987.1:g.188781_188791del
NG_006987.2:g.188781_188791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.7686-181_7686-171del MANE Select	ENSP00000282516.8:n.7686-181_7686-171del
ENST00000652901.1:c.7539-181_7539-171del	ENSP00000499536.1:n.7539-181_7539-171del
ENST00000282516.12:c.7686-181_7686-171del	ENSP00000282516.8:n.7686-181_7686-171del
ENST00000448238.2:c.7686-181_7686-171del	ENSP00000406266.2:n.7686-181_7686-171del
ENST00000513819.1:c.263+1498_263+1508del	ENSP00000421504.1:n.263+1498_263+1508del
ENST00000514335.1:n.1568-181_1568-171del
ENST00000621733.1:c.1-3915_1-3905del	ENSP00000480694.1:n.1-3915_1-3905del
NM_015384.4:c.7686-181_7686-171del	NP_056199.2:n.7686-181_7686-171del
NM_133433.3:c.7686-181_7686-171del	NP_597677.2:n.7686-181_7686-171del
XM_005248280.2:c.7686-181_7686-171del	XP_005248337.1:n.7686-181_7686-171del
XM_005248282.3:c.6942-181_6942-171del	XP_005248339.2:n.6942-181_6942-171del
XM_006714467.2:c.7539-181_7539-171del	XP_006714530.1:n.7539-181_7539-171del
XM_006714468.1:c.7488-181_7488-171del	XP_006714531.1:n.7488-181_7488-171del
XM_011514014.1:c.7305-181_7305-171del	XP_011512316.1:n.7305-181_7305-171del
XM_011514015.1:c.7264-181_7264-171del	XP_011512317.1:n.7264-181_7264-171del
XM_005248280.3:c.7686-181_7686-171del	XP_005248337.1:n.7686-181_7686-171del
XM_005248282.5:c.7026-181_7026-171del	XP_005248339.3:n.7026-181_7026-171del
XM_006714468.2:c.7488-181_7488-171del	XP_006714531.1:n.7488-181_7488-171del
XM_017009329.1:c.7539-181_7539-171del	XP_016864818.1:n.7539-181_7539-171del
XM_017009330.2:c.6069-181_6069-171del	XP_016864819.1:n.6069-181_6069-171del
XM_017009331.1:c.6060-181_6060-171del	XP_016864820.1:n.6060-181_6060-171del
NM_133433.4:c.7686-181_7686-171del MANE Select	NP_597677.2:n.7686-181_7686-171del
NM_015384.5:c.7686-181_7686-171del	NP_056199.2:n.7686-181_7686-171del