Canonical Allele Identifier: CA559020442

Gene: NIPBL

Linked Data

• dbSNP Id: rs1346610480
• gnomAD v2: 5-37038916-AACC-A
• gnomAD v3: 5-37038814-AACC-A
• gnomAD v4: 5-37038814-AACC-A
• MyVariant Identifiers: chr5:g.37038917_37038919del (hg19) ; chr5:g.37038815_37038817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038817_37038819del , CM000667.2:g.37038817_37038819del	GRCh38
NC_000005.9:g.37038919_37038921del , CM000667.1:g.37038919_37038921del	GRCh37
NC_000005.8:g.37074676_37074678del	NCBI36
NG_006987.1:g.166935_166937del
NG_006987.2:g.166935_166937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+79_6108+81del MANE Select	ENSP00000282516.8:n.6108+79_6108+81del
ENST00000652901.1:c.6108+79_6108+81del	ENSP00000499536.1:n.6108+79_6108+81del
ENST00000282516.12:c.6108+79_6108+81del	ENSP00000282516.8:n.6108+79_6108+81del
ENST00000448238.2:c.6108+79_6108+81del	ENSP00000406266.2:n.6108+79_6108+81del
ENST00000621733.1:c.1-25761_1-25759del	ENSP00000480694.1:n.1-25761_1-25759del
NM_015384.4:c.6108+79_6108+81del	NP_056199.2:n.6108+79_6108+81del
NM_133433.3:c.6108+79_6108+81del	NP_597677.2:n.6108+79_6108+81del
XM_005248280.2:c.6108+79_6108+81del	XP_005248337.1:n.6108+79_6108+81del
XM_005248282.3:c.5364+79_5364+81del	XP_005248339.2:n.5364+79_5364+81del
XM_006714467.2:c.6108+79_6108+81del	XP_006714530.1:n.6108+79_6108+81del
XM_006714468.1:c.5910+79_5910+81del	XP_006714531.1:n.5910+79_5910+81del
XM_011514014.1:c.5727+79_5727+81del	XP_011512316.1:n.5727+79_5727+81del
XM_011514015.1:c.6108+79_6108+81del	XP_011512317.1:n.6108+79_6108+81del
XM_005248280.3:c.6108+79_6108+81del	XP_005248337.1:n.6108+79_6108+81del
XM_005248282.5:c.5448+79_5448+81del	XP_005248339.3:n.5448+79_5448+81del
XM_006714468.2:c.5910+79_5910+81del	XP_006714531.1:n.5910+79_5910+81del
XM_017009329.1:c.6108+79_6108+81del	XP_016864818.1:n.6108+79_6108+81del
XM_017009330.2:c.4491+79_4491+81del	XP_016864819.1:n.4491+79_4491+81del
XM_017009331.1:c.4482+79_4482+81del	XP_016864820.1:n.4482+79_4482+81del
NM_133433.4:c.6108+79_6108+81del MANE Select	NP_597677.2:n.6108+79_6108+81del
NM_015384.5:c.6108+79_6108+81del	NP_056199.2:n.6108+79_6108+81del