Canonical Allele Identifier: CA559168639

Gene: NIPBL

Linked Data

• dbSNP Id: rs1347733454
• gnomAD v2: 5-36877095-AAGG-A
• gnomAD v3: 5-36876993-AAGG-A
• gnomAD v4: 5-36876993-AAGG-A
• MyVariant Identifiers: chr5:g.36877099_36877101del (hg19) ; chr5:g.36877096_36877098del (hg19) ; chr5:g.36876997_36876999del (hg38) ; chr5:g.36876994_36876996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36877007_36877009del , CM000667.2:g.36877007_36877009del	GRCh38
NC_000005.9:g.36877109_36877111del , CM000667.1:g.36877109_36877111del	GRCh37
NC_000005.8:g.36912866_36912868del	NCBI36
NG_006987.1:g.5125_5127del
NG_006987.2:g.5125_5127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-251_-249del MANE Select	ENSP00000282516.8:n.-251_-249del
ENST00000652901.1:c.-251_-249del	ENSP00000499536.1:n.-251_-249del
ENST00000282516.12:c.-251_-249del	ENSP00000282516.8:n.-251_-249del
ENST00000448238.2:c.-251_-249del	ENSP00000406266.2:n.-251_-249del
NM_015384.4:c.-251_-249del	NP_056199.2:n.-251_-249del
NM_133433.3:c.-251_-249del	NP_597677.2:n.-251_-249del
XM_005248280.2:c.-251_-249del	XP_005248337.1:n.-251_-249del
XM_006714467.2:c.-251_-249del	XP_006714530.1:n.-251_-249del
XM_006714468.1:c.-251_-249del	XP_006714531.1:n.-251_-249del
XM_011514014.1:c.-251_-249del	XP_011512316.1:n.-251_-249del
XM_011514015.1:c.-251_-249del	XP_011512317.1:n.-251_-249del
XM_005248280.3:c.-251_-249del	XP_005248337.1:n.-251_-249del
XM_006714468.2:c.-251_-249del	XP_006714531.1:n.-251_-249del
XM_017009329.1:c.-251_-249del	XP_016864818.1:n.-251_-249del
XM_017009331.1:c.-251_-249del	XP_016864820.1:n.-251_-249del
NM_133433.4:c.-251_-249del MANE Select	NP_597677.2:n.-251_-249del
NM_015384.5:c.-251_-249del	NP_056199.2:n.-251_-249del