Canonical Allele Identifier: CA1539600540

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746621580

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000167_37000186del , CM000667.2:g.37000167_37000186del	GRCh38
NC_000005.9:g.37000269_37000288del , CM000667.1:g.37000269_37000288del	GRCh37
NC_000005.8:g.37036026_37036045del	NCBI36
NG_006987.1:g.128285_128304del
NG_006987.2:g.128285_128304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3305-206_3305-187del MANE Select	ENSP00000282516.8:n.3305-206_3305-187del
ENST00000652901.1:c.3305-206_3305-187del	ENSP00000499536.1:n.3305-206_3305-187del
ENST00000282516.12:c.3305-206_3305-187del	ENSP00000282516.8:n.3305-206_3305-187del
ENST00000448238.2:c.3305-206_3305-187del	ENSP00000406266.2:n.3305-206_3305-187del
ENST00000503274.1:n.656-206_656-187del
ENST00000621733.1:c.1-64411_1-64392del	ENSP00000480694.1:n.1-64411_1-64392del
NM_015384.4:c.3305-206_3305-187del	NP_056199.2:n.3305-206_3305-187del
NM_133433.3:c.3305-206_3305-187del	NP_597677.2:n.3305-206_3305-187del
XM_005248280.2:c.3305-206_3305-187del	XP_005248337.1:n.3305-206_3305-187del
XM_005248282.3:c.2561-206_2561-187del	XP_005248339.2:n.2561-206_2561-187del
XM_006714467.2:c.3305-206_3305-187del	XP_006714530.1:n.3305-206_3305-187del
XM_006714468.1:c.3305-650_3305-631del	XP_006714531.1:n.3305-650_3305-631del
XM_011514014.1:c.3122-650_3122-631del	XP_011512316.1:n.3122-650_3122-631del
XM_011514015.1:c.3305-206_3305-187del	XP_011512317.1:n.3305-206_3305-187del
XM_005248280.3:c.3305-206_3305-187del	XP_005248337.1:n.3305-206_3305-187del
XM_005248282.5:c.2645-206_2645-187del	XP_005248339.3:n.2645-206_2645-187del
XM_006714468.2:c.3305-650_3305-631del	XP_006714531.1:n.3305-650_3305-631del
XM_017009329.1:c.3305-206_3305-187del	XP_016864818.1:n.3305-206_3305-187del
XM_017009330.2:c.1688-206_1688-187del	XP_016864819.1:n.1688-206_1688-187del
XM_017009331.1:c.1679-206_1679-187del	XP_016864820.1:n.1679-206_1679-187del
NM_133433.4:c.3305-206_3305-187del MANE Select	NP_597677.2:n.3305-206_3305-187del
NM_015384.5:c.3305-206_3305-187del	NP_056199.2:n.3305-206_3305-187del