Canonical Allele Identifier: CA3236622

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 2875487
• ClinVar RCV Id: RCV003602729
• dbSNP Id: rs748963945
• ExAC: 5:37016283 A / ATTAT
• gnomAD v2: 5-37016283-A-ATTAT
• gnomAD v4: 5-37016181-A-ATTAT
• MyVariant Identifiers: chr5:g.37016283_37016284insTTAT (hg19) ; chr5:g.37016181_37016182insTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016181_37016182insTTAT , CM000667.2:g.37016181_37016182insTTAT	GRCh38
NC_000005.9:g.37016283_37016284insTTAT , CM000667.1:g.37016283_37016284insTTAT	GRCh37
NC_000005.8:g.37052040_37052041insTTAT	NCBI36
NG_006987.1:g.144299_144300insTTAT
NG_006987.2:g.144299_144300insTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4776+11_4776+12insTTAT MANE Select	ENSP00000282516.8:n.4776+11_4776+12insTTAT
ENST00000652901.1:c.4776+11_4776+12insTTAT	ENSP00000499536.1:n.4776+11_4776+12insTTAT
ENST00000282516.12:c.4776+11_4776+12insTTAT	ENSP00000282516.8:n.4776+11_4776+12insTTAT
ENST00000448238.2:c.4776+11_4776+12insTTAT	ENSP00000406266.2:n.4776+11_4776+12insTTAT
ENST00000621733.1:c.1-48397_1-48396insTTAT	ENSP00000480694.1:n.1-48397_1-48396insTTAT
NM_015384.4:c.4776+11_4776+12insTTAT	NP_056199.2:n.4776+11_4776+12insTTAT
NM_133433.3:c.4776+11_4776+12insTTAT	NP_597677.2:n.4776+11_4776+12insTTAT
XM_005248280.2:c.4776+11_4776+12insTTAT	XP_005248337.1:n.4776+11_4776+12insTTAT
XM_005248282.3:c.4032+11_4032+12insTTAT	XP_005248339.2:n.4032+11_4032+12insTTAT
XM_006714467.2:c.4776+11_4776+12insTTAT	XP_006714530.1:n.4776+11_4776+12insTTAT
XM_006714468.1:c.4578+11_4578+12insTTAT	XP_006714531.1:n.4578+11_4578+12insTTAT
XM_011514014.1:c.4395+11_4395+12insTTAT	XP_011512316.1:n.4395+11_4395+12insTTAT
XM_011514015.1:c.4776+11_4776+12insTTAT	XP_011512317.1:n.4776+11_4776+12insTTAT
XM_005248280.3:c.4776+11_4776+12insTTAT	XP_005248337.1:n.4776+11_4776+12insTTAT
XM_005248282.5:c.4116+11_4116+12insTTAT	XP_005248339.3:n.4116+11_4116+12insTTAT
XM_006714468.2:c.4578+11_4578+12insTTAT	XP_006714531.1:n.4578+11_4578+12insTTAT
XM_017009329.1:c.4776+11_4776+12insTTAT	XP_016864818.1:n.4776+11_4776+12insTTAT
XM_017009330.2:c.3159+11_3159+12insTTAT	XP_016864819.1:n.3159+11_3159+12insTTAT
XM_017009331.1:c.3150+11_3150+12insTTAT	XP_016864820.1:n.3150+11_3150+12insTTAT
NM_133433.4:c.4776+11_4776+12insTTAT MANE Select	NP_597677.2:n.4776+11_4776+12insTTAT
NM_015384.5:c.4776+11_4776+12insTTAT	NP_056199.2:n.4776+11_4776+12insTTAT