Canonical Allele Identifier: CA559168601

Gene: NIPBL

Linked Data

• dbSNP Id: rs1745089170
• gnomAD v2: 5-36876932-G-GCCCTCCCCC
• gnomAD v3: 5-36876830-G-GCCCTCCCCC
• gnomAD v4: 5-36876830-G-GCCCTCCCCC
• MyVariant Identifiers: chr5:g.36876932_36876933insCCCTCCCCC (hg19) ; chr5:g.36876830_36876831insCCCTCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36876838_36876846dup , CM000667.2:g.36876838_36876846dup	GRCh38
NC_000005.9:g.36876940_36876948dup , CM000667.1:g.36876940_36876948dup	GRCh37
NC_000005.8:g.36912697_36912705dup	NCBI36
NG_006987.1:g.4956_4964dup
NG_006987.2:g.4956_4964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.-420_-412dup MANE Select	ENSP00000282516.8:n.-420_-412dup
ENST00000282516.12:c.-420_-412dup	ENSP00000282516.8:n.-420_-412dup
ENST00000448238.2:c.-420_-412dup	ENSP00000406266.2:n.-420_-412dup
NM_015384.4:c.-420_-412dup	NP_056199.2:n.-420_-412dup
NM_133433.3:c.-420_-412dup	NP_597677.2:n.-420_-412dup
XM_005248280.2:c.-420_-412dup	XP_005248337.1:n.-420_-412dup
XM_006714467.2:c.-420_-412dup	XP_006714530.1:n.-420_-412dup
XM_006714468.1:c.-420_-412dup	XP_006714531.1:n.-420_-412dup
XM_011514014.1:c.-420_-412dup	XP_011512316.1:n.-420_-412dup
XM_011514015.1:c.-420_-412dup	XP_011512317.1:n.-420_-412dup
XM_005248280.3:c.-420_-412dup	XP_005248337.1:n.-420_-412dup
XM_006714468.2:c.-420_-412dup	XP_006714531.1:n.-420_-412dup
XM_017009329.1:c.-420_-412dup	XP_016864818.1:n.-420_-412dup
XM_017009331.1:c.-420_-412dup	XP_016864820.1:n.-420_-412dup
NM_133433.4:c.-420_-412dup MANE Select	NP_597677.2:n.-420_-412dup
NM_015384.5:c.-420_-412dup	NP_056199.2:n.-420_-412dup