Canonical Allele Identifier: CA810292129

Gene: NIPBL

Linked Data

• dbSNP Id: rs1224827953
• gnomAD v3: 5-36953602-GT-G
• gnomAD v4: 5-36953602-GT-G
• MyVariant Identifiers: chr5:g.36953705del (hg19) ; chr5:g.36953603del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36953606del , CM000667.2:g.36953606del	GRCh38
NC_000005.9:g.36953708del , CM000667.1:g.36953708del	GRCh37
NC_000005.8:g.36989465del	NCBI36
NG_006987.1:g.81724del
NG_006987.2:g.81724del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.-79-12del MANE Select	ENSP00000282516.8:n.-79-12del
ENST00000652901.1:c.-79-12del	ENSP00000499536.1:n.-79-12del
ENST00000282516.12:c.-79-12del	ENSP00000282516.8:n.-79-12del
ENST00000448238.2:c.-79-12del	ENSP00000406266.2:n.-79-12del
ENST00000621733.1:c.-1+76584del	ENSP00000480694.1:n.-1+76584del
NM_015384.4:c.-79-12del	NP_056199.2:n.-79-12del
NM_133433.3:c.-79-12del	NP_597677.2:n.-79-12del
XM_005248280.2:c.-79-12del	XP_005248337.1:n.-79-12del
XM_006714467.2:c.-79-12del	XP_006714530.1:n.-79-12del
XM_006714468.1:c.-79-12del	XP_006714531.1:n.-79-12del
XM_011514014.1:c.-79-12del	XP_011512316.1:n.-79-12del
XM_011514015.1:c.-79-12del	XP_011512317.1:n.-79-12del
XM_005248280.3:c.-79-12del	XP_005248337.1:n.-79-12del
XM_006714468.2:c.-79-12del	XP_006714531.1:n.-79-12del
XM_017009329.1:c.-79-12del	XP_016864818.1:n.-79-12del
XM_017009331.1:c.-79-12del	XP_016864820.1:n.-79-12del
NM_133433.4:c.-79-12del MANE Select	NP_597677.2:n.-79-12del
NM_015384.5:c.-79-12del	NP_056199.2:n.-79-12del