Canonical Allele Identifier: CA117450127

Gene: NIPBL

Linked Data

• dbSNP Id: rs536806432
• gnomAD v3: 5-36900671-TTTTTG-T
• gnomAD v4: 5-36900671-TTTTTG-T
• MyVariant Identifiers: chr5:g.36900774_36900778del (hg19) ; chr5:g.36900672_36900676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36900691_36900695del , CM000667.2:g.36900691_36900695del	GRCh38
NC_000005.9:g.36900793_36900797del , CM000667.1:g.36900793_36900797del	GRCh37
NC_000005.8:g.36936550_36936554del	NCBI36
NG_006987.1:g.28809_28813del
NG_006987.2:g.28809_28813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-80+23513_-80+23517del MANE Select	ENSP00000282516.8:n.-80+23513_-80+23517del
ENST00000652901.1:c.-80+23513_-80+23517del	ENSP00000499536.1:n.-80+23513_-80+23517del
ENST00000282516.12:c.-80+23513_-80+23517del	ENSP00000282516.8:n.-80+23513_-80+23517del
ENST00000448238.2:c.-80+23513_-80+23517del	ENSP00000406266.2:n.-80+23513_-80+23517del
ENST00000621733.1:c.-1+23669_-1+23673del	ENSP00000480694.1:n.-1+23669_-1+23673del
NM_015384.4:c.-80+23513_-80+23517del	NP_056199.2:n.-80+23513_-80+23517del
NM_133433.3:c.-80+23513_-80+23517del	NP_597677.2:n.-80+23513_-80+23517del
XM_005248280.2:c.-80+23513_-80+23517del	XP_005248337.1:n.-80+23513_-80+23517del
XM_006714467.2:c.-80+23513_-80+23517del	XP_006714530.1:n.-80+23513_-80+23517del
XM_006714468.1:c.-80+23513_-80+23517del	XP_006714531.1:n.-80+23513_-80+23517del
XM_011514014.1:c.-80+23513_-80+23517del	XP_011512316.1:n.-80+23513_-80+23517del
XM_011514015.1:c.-80+23513_-80+23517del	XP_011512317.1:n.-80+23513_-80+23517del
XM_005248280.3:c.-80+23513_-80+23517del	XP_005248337.1:n.-80+23513_-80+23517del
XM_006714468.2:c.-80+23513_-80+23517del	XP_006714531.1:n.-80+23513_-80+23517del
XM_017009329.1:c.-80+23513_-80+23517del	XP_016864818.1:n.-80+23513_-80+23517del
XM_017009331.1:c.-80+23513_-80+23517del	XP_016864820.1:n.-80+23513_-80+23517del
NM_133433.4:c.-80+23513_-80+23517del MANE Select	NP_597677.2:n.-80+23513_-80+23517del
NM_015384.5:c.-80+23513_-80+23517del	NP_056199.2:n.-80+23513_-80+23517del