Canonical Allele Identifier: CA559295294

Gene: NIPBL

Linked Data

• dbSNP Id: rs1200374339
• gnomAD v2: 5-37045721-A-ATATTTATCTT
• MyVariant Identifiers: chr5:g.37045721_37045722insTATTTATCTT (hg19) ; chr5:g.37045619_37045620insTATTTATCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045620_37045621insATTTATCTTT , CM000667.2:g.37045620_37045621insATTTATCTTT	GRCh38
NC_000005.9:g.37045722_37045723insATTTATCTTT , CM000667.1:g.37045722_37045723insATTTATCTTT	GRCh37
NC_000005.8:g.37081479_37081480insATTTATCTTT	NCBI36
NG_006987.1:g.173738_173739insATTTATCTTT
NG_006987.2:g.173738_173739insATTTATCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6498+23_6498+24insATTTATCTTT MANE Select	ENSP00000282516.8:n.6498+23_6498+24insATT...
ENST00000652901.1:c.6498+23_6498+24insATTTATCTTT	ENSP00000499536.1:n.6498+23_6498+24insATT...
ENST00000282516.12:c.6498+23_6498+24insATTTATCTTT	ENSP00000282516.8:n.6498+23_6498+24insATT...
ENST00000448238.2:c.6498+23_6498+24insATTTATCTTT	ENSP00000406266.2:n.6498+23_6498+24insATT...
ENST00000621733.1:c.1-18958_1-18957insATTTATCTTT	ENSP00000480694.1:n.1-18958_1-18957insATT...
NM_015384.4:c.6498+23_6498+24insATTTATCTTT	NP_056199.2:n.6498+23_6498+24insATTTATCTT...
NM_133433.3:c.6498+23_6498+24insATTTATCTTT	NP_597677.2:n.6498+23_6498+24insATTTATCTT...
XM_005248280.2:c.6498+23_6498+24insATTTATCTTT	XP_005248337.1:n.6498+23_6498+24insATTTAT...
XM_005248282.3:c.5754+23_5754+24insATTTATCTTT	XP_005248339.2:n.5754+23_5754+24insATTTAT...
XM_006714467.2:c.6498+23_6498+24insATTTATCTTT	XP_006714530.1:n.6498+23_6498+24insATTTAT...
XM_006714468.1:c.6300+23_6300+24insATTTATCTTT	XP_006714531.1:n.6300+23_6300+24insATTTAT...
XM_011514014.1:c.6117+23_6117+24insATTTATCTTT	XP_011512316.1:n.6117+23_6117+24insATTTAT...
XM_011514015.1:c.6498+23_6498+24insATTTATCTTT	XP_011512317.1:n.6498+23_6498+24insATTTAT...
XM_005248280.3:c.6498+23_6498+24insATTTATCTTT	XP_005248337.1:n.6498+23_6498+24insATTTAT...
XM_005248282.5:c.5838+23_5838+24insATTTATCTTT	XP_005248339.3:n.5838+23_5838+24insATTTAT...
XM_006714468.2:c.6300+23_6300+24insATTTATCTTT	XP_006714531.1:n.6300+23_6300+24insATTTAT...
XM_017009329.1:c.6498+23_6498+24insATTTATCTTT	XP_016864818.1:n.6498+23_6498+24insATTTAT...
XM_017009330.2:c.4881+23_4881+24insATTTATCTTT	XP_016864819.1:n.4881+23_4881+24insATTTAT...
XM_017009331.1:c.4872+23_4872+24insATTTATCTTT	XP_016864820.1:n.4872+23_4872+24insATTTAT...
NM_133433.4:c.6498+23_6498+24insATTTATCTTT MANE Select	NP_597677.2:n.6498+23_6498+24insATTTATCTT...
NM_015384.5:c.6498+23_6498+24insATTTATCTTT	NP_056199.2:n.6498+23_6498+24insATTTATCTT...