Canonical Allele Identifier: CA117038212

Gene: NIPBL

Linked Data

• dbSNP Id: rs1554030178
• MyVariant Identifiers: chr5:g.37038518_37038519insTATG (hg19) ; chr5:g.37038416_37038417insTATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038419_37038420insGTAT , CM000667.2:g.37038419_37038420insGTAT	GRCh38
NC_000005.9:g.37038521_37038522insGTAT , CM000667.1:g.37038521_37038522insGTAT	GRCh37
NC_000005.8:g.37074278_37074279insGTAT	NCBI36
NG_006987.1:g.166537_166538insGTAT
NG_006987.2:g.166537_166538insGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5972-183_5972-182insGTAT MANE Select	ENSP00000282516.8:n.5972-183_5972-182insGTAT
ENST00000652901.1:c.5972-183_5972-182insGTAT	ENSP00000499536.1:n.5972-183_5972-182insGTAT
ENST00000282516.12:c.5972-183_5972-182insGTAT	ENSP00000282516.8:n.5972-183_5972-182insGTAT
ENST00000448238.2:c.5972-183_5972-182insGTAT	ENSP00000406266.2:n.5972-183_5972-182insGTAT
ENST00000621733.1:c.1-26159_1-26158insGTAT	ENSP00000480694.1:n.1-26159_1-26158insGTAT
NM_015384.4:c.5972-183_5972-182insGTAT	NP_056199.2:n.5972-183_5972-182insGTAT
NM_133433.3:c.5972-183_5972-182insGTAT	NP_597677.2:n.5972-183_5972-182insGTAT
XM_005248280.2:c.5972-183_5972-182insGTAT	XP_005248337.1:n.5972-183_5972-182insGTAT
XM_005248282.3:c.5228-183_5228-182insGTAT	XP_005248339.2:n.5228-183_5228-182insGTAT
XM_006714467.2:c.5972-183_5972-182insGTAT	XP_006714530.1:n.5972-183_5972-182insGTAT
XM_006714468.1:c.5774-183_5774-182insGTAT	XP_006714531.1:n.5774-183_5774-182insGTAT
XM_011514014.1:c.5591-183_5591-182insGTAT	XP_011512316.1:n.5591-183_5591-182insGTAT
XM_011514015.1:c.5972-183_5972-182insGTAT	XP_011512317.1:n.5972-183_5972-182insGTAT
XM_005248280.3:c.5972-183_5972-182insGTAT	XP_005248337.1:n.5972-183_5972-182insGTAT
XM_005248282.5:c.5312-183_5312-182insGTAT	XP_005248339.3:n.5312-183_5312-182insGTAT
XM_006714468.2:c.5774-183_5774-182insGTAT	XP_006714531.1:n.5774-183_5774-182insGTAT
XM_017009329.1:c.5972-183_5972-182insGTAT	XP_016864818.1:n.5972-183_5972-182insGTAT
XM_017009330.2:c.4355-183_4355-182insGTAT	XP_016864819.1:n.4355-183_4355-182insGTAT
XM_017009331.1:c.4346-183_4346-182insGTAT	XP_016864820.1:n.4346-183_4346-182insGTAT
NM_133433.4:c.5972-183_5972-182insGTAT MANE Select	NP_597677.2:n.5972-183_5972-182insGTAT
NM_015384.5:c.5972-183_5972-182insGTAT	NP_056199.2:n.5972-183_5972-182insGTAT