Canonical Allele Identifier: CA2673574670

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37000288-TCCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000289_37000293del , CM000667.2:g.37000289_37000293del	GRCh38
NC_000005.9:g.37000391_37000395del , CM000667.1:g.37000391_37000395del	GRCh37
NC_000005.8:g.37036148_37036152del	NCBI36
NG_006987.1:g.128407_128411del
NG_006987.2:g.128407_128411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3305-84_3305-80del MANE Select	ENSP00000282516.8:n.3305-84_3305-80del
ENST00000652901.1:c.3305-84_3305-80del	ENSP00000499536.1:n.3305-84_3305-80del
ENST00000282516.12:c.3305-84_3305-80del	ENSP00000282516.8:n.3305-84_3305-80del
ENST00000448238.2:c.3305-84_3305-80del	ENSP00000406266.2:n.3305-84_3305-80del
ENST00000503274.1:n.656-84_656-80del
ENST00000621733.1:c.1-64289_1-64285del	ENSP00000480694.1:n.1-64289_1-64285del
NM_015384.4:c.3305-84_3305-80del	NP_056199.2:n.3305-84_3305-80del
NM_133433.3:c.3305-84_3305-80del	NP_597677.2:n.3305-84_3305-80del
XM_005248280.2:c.3305-84_3305-80del	XP_005248337.1:n.3305-84_3305-80del
XM_005248282.3:c.2561-84_2561-80del	XP_005248339.2:n.2561-84_2561-80del
XM_006714467.2:c.3305-84_3305-80del	XP_006714530.1:n.3305-84_3305-80del
XM_006714468.1:c.3305-528_3305-524del	XP_006714531.1:n.3305-528_3305-524del
XM_011514014.1:c.3122-528_3122-524del	XP_011512316.1:n.3122-528_3122-524del
XM_011514015.1:c.3305-84_3305-80del	XP_011512317.1:n.3305-84_3305-80del
XM_005248280.3:c.3305-84_3305-80del	XP_005248337.1:n.3305-84_3305-80del
XM_005248282.5:c.2645-84_2645-80del	XP_005248339.3:n.2645-84_2645-80del
XM_006714468.2:c.3305-528_3305-524del	XP_006714531.1:n.3305-528_3305-524del
XM_017009329.1:c.3305-84_3305-80del	XP_016864818.1:n.3305-84_3305-80del
XM_017009330.2:c.1688-84_1688-80del	XP_016864819.1:n.1688-84_1688-80del
XM_017009331.1:c.1679-84_1679-80del	XP_016864820.1:n.1679-84_1679-80del
NM_133433.4:c.3305-84_3305-80del MANE Select	NP_597677.2:n.3305-84_3305-80del
NM_015384.5:c.3305-84_3305-80del	NP_056199.2:n.3305-84_3305-80del