Canonical Allele Identifier: CA559295088

Gene: NIPBL

Linked Data

• dbSNP Id: rs1232689343
• gnomAD v2: 5-36995630-CAA-C
• gnomAD v4: 5-36995528-CAA-C
• MyVariant Identifiers: chr5:g.36995631_36995632del (hg19) ; chr5:g.36995529_36995530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995530_36995531del , CM000667.2:g.36995530_36995531del	GRCh38
NC_000005.9:g.36995632_36995633del , CM000667.1:g.36995632_36995633del	GRCh37
NC_000005.8:g.37031389_37031390del	NCBI36
NG_006987.1:g.123648_123649del
NG_006987.2:g.123648_123649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-92_3122-91del MANE Select	ENSP00000282516.8:n.3122-92_3122-91del
ENST00000652901.1:c.3122-92_3122-91del	ENSP00000499536.1:n.3122-92_3122-91del
ENST00000282516.12:c.3122-92_3122-91del	ENSP00000282516.8:n.3122-92_3122-91del
ENST00000448238.2:c.3122-92_3122-91del	ENSP00000406266.2:n.3122-92_3122-91del
ENST00000503274.1:n.381_382del
ENST00000504430.5:n.2742-92_2742-91del
ENST00000621733.1:c.1-69048_1-69047del	ENSP00000480694.1:n.1-69048_1-69047del
NM_015384.4:c.3122-92_3122-91del	NP_056199.2:n.3122-92_3122-91del
NM_133433.3:c.3122-92_3122-91del	NP_597677.2:n.3122-92_3122-91del
XM_005248280.2:c.3122-92_3122-91del	XP_005248337.1:n.3122-92_3122-91del
XM_005248282.3:c.2378-92_2378-91del	XP_005248339.2:n.2378-92_2378-91del
XM_006714467.2:c.3122-92_3122-91del	XP_006714530.1:n.3122-92_3122-91del
XM_006714468.1:c.3122-92_3122-91del	XP_006714531.1:n.3122-92_3122-91del
XM_011514014.1:c.3122-5287_3122-5286del	XP_011512316.1:n.3122-5287_3122-5286del
XM_011514015.1:c.3122-92_3122-91del	XP_011512317.1:n.3122-92_3122-91del
XM_005248280.3:c.3122-92_3122-91del	XP_005248337.1:n.3122-92_3122-91del
XM_005248282.5:c.2462-92_2462-91del	XP_005248339.3:n.2462-92_2462-91del
XM_006714468.2:c.3122-92_3122-91del	XP_006714531.1:n.3122-92_3122-91del
XM_017009329.1:c.3122-92_3122-91del	XP_016864818.1:n.3122-92_3122-91del
XM_017009330.2:c.1505-92_1505-91del	XP_016864819.1:n.1505-92_1505-91del
XM_017009331.1:c.1496-92_1496-91del	XP_016864820.1:n.1496-92_1496-91del
NM_133433.4:c.3122-92_3122-91del MANE Select	NP_597677.2:n.3122-92_3122-91del
NM_015384.5:c.3122-92_3122-91del	NP_056199.2:n.3122-92_3122-91del