Canonical Allele Identifier: CA559014371

Gene: NIPBL

Linked Data

• dbSNP Id: rs1409367036
• gnomAD v2: 5-37016092-CAT-C
• gnomAD v3: 5-37015990-CAT-C
• gnomAD v4: 5-37015990-CAT-C
• MyVariant Identifiers: chr5:g.37016093_37016094del (hg19) ; chr5:g.37015991_37015992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37015991_37015992del , CM000667.2:g.37015991_37015992del	GRCh38
NC_000005.9:g.37016093_37016094del , CM000667.1:g.37016093_37016094del	GRCh37
NC_000005.8:g.37051850_37051851del	NCBI36
NG_006987.1:g.144109_144110del
NG_006987.2:g.144109_144110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4644-47_4644-46del MANE Select	ENSP00000282516.8:n.4644-47_4644-46del
ENST00000652901.1:c.4644-47_4644-46del	ENSP00000499536.1:n.4644-47_4644-46del
ENST00000282516.12:c.4644-47_4644-46del	ENSP00000282516.8:n.4644-47_4644-46del
ENST00000448238.2:c.4644-47_4644-46del	ENSP00000406266.2:n.4644-47_4644-46del
ENST00000621733.1:c.1-48587_1-48586del	ENSP00000480694.1:n.1-48587_1-48586del
NM_015384.4:c.4644-47_4644-46del	NP_056199.2:n.4644-47_4644-46del
NM_133433.3:c.4644-47_4644-46del	NP_597677.2:n.4644-47_4644-46del
XM_005248280.2:c.4644-47_4644-46del	XP_005248337.1:n.4644-47_4644-46del
XM_005248282.3:c.3900-47_3900-46del	XP_005248339.2:n.3900-47_3900-46del
XM_006714467.2:c.4644-47_4644-46del	XP_006714530.1:n.4644-47_4644-46del
XM_006714468.1:c.4446-47_4446-46del	XP_006714531.1:n.4446-47_4446-46del
XM_011514014.1:c.4263-47_4263-46del	XP_011512316.1:n.4263-47_4263-46del
XM_011514015.1:c.4644-47_4644-46del	XP_011512317.1:n.4644-47_4644-46del
XM_005248280.3:c.4644-47_4644-46del	XP_005248337.1:n.4644-47_4644-46del
XM_005248282.5:c.3984-47_3984-46del	XP_005248339.3:n.3984-47_3984-46del
XM_006714468.2:c.4446-47_4446-46del	XP_006714531.1:n.4446-47_4446-46del
XM_017009329.1:c.4644-47_4644-46del	XP_016864818.1:n.4644-47_4644-46del
XM_017009330.2:c.3027-47_3027-46del	XP_016864819.1:n.3027-47_3027-46del
XM_017009331.1:c.3018-47_3018-46del	XP_016864820.1:n.3018-47_3018-46del
NM_133433.4:c.4644-47_4644-46del MANE Select	NP_597677.2:n.4644-47_4644-46del
NM_015384.5:c.4644-47_4644-46del	NP_056199.2:n.4644-47_4644-46del