Canonical Allele Identifier: CA1539618624
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37045600_37045605delinsAAAGGT , CM000667.2:g.37045600_37045605delinsAAAGGT GRCh38
NC_000005.9:g.37045702_37045707delinsAAAGGT , CM000667.1:g.37045702_37045707delinsAAAGGT GRCh37
NC_000005.8:g.37081459_37081464delinsAAAGGT NCBI36
NG_006987.1:g.173718_173723delinsAAAGGT
NG_006987.2:g.173718_173723delinsAAAGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.6498+3_6498+8delinsAAAGGT MANE Select ENSP00000282516.8:n.6498+3_6498+8delinsAA...
ENST00000652901.1:c.6498+3_6498+8delinsAAAGGT ENSP00000499536.1:n.6498+3_6498+8delinsAA...
ENST00000282516.12:c.6498+3_6498+8delinsAAAGGT ENSP00000282516.8:n.6498+3_6498+8delinsAA...
ENST00000448238.2:c.6498+3_6498+8delinsAAAGGT ENSP00000406266.2:n.6498+3_6498+8delinsAA...
ENST00000621733.1:c.1-18978_1-18973delinsAAAGGT ENSP00000480694.1:n.1-18978_1-18973delins...
NM_015384.4:c.6498+3_6498+8delinsAAAGGT NP_056199.2:n.6498+3_6498+8delinsAAAGGT
NM_133433.3:c.6498+3_6498+8delinsAAAGGT NP_597677.2:n.6498+3_6498+8delinsAAAGGT
XM_005248280.2:c.6498+3_6498+8delinsAAAGGT XP_005248337.1:n.6498+3_6498+8delinsAAAGG...
XM_005248282.3:c.5754+3_5754+8delinsAAAGGT XP_005248339.2:n.5754+3_5754+8delinsAAAGG...
XM_006714467.2:c.6498+3_6498+8delinsAAAGGT XP_006714530.1:n.6498+3_6498+8delinsAAAGG...
XM_006714468.1:c.6300+3_6300+8delinsAAAGGT XP_006714531.1:n.6300+3_6300+8delinsAAAGG...
XM_011514014.1:c.6117+3_6117+8delinsAAAGGT XP_011512316.1:n.6117+3_6117+8delinsAAAGG...
XM_011514015.1:c.6498+3_6498+8delinsAAAGGT XP_011512317.1:n.6498+3_6498+8delinsAAAGG...
XM_005248280.3:c.6498+3_6498+8delinsAAAGGT XP_005248337.1:n.6498+3_6498+8delinsAAAGG...
XM_005248282.5:c.5838+3_5838+8delinsAAAGGT XP_005248339.3:n.5838+3_5838+8delinsAAAGG...
XM_006714468.2:c.6300+3_6300+8delinsAAAGGT XP_006714531.1:n.6300+3_6300+8delinsAAAGG...
XM_017009329.1:c.6498+3_6498+8delinsAAAGGT XP_016864818.1:n.6498+3_6498+8delinsAAAGG...
XM_017009330.2:c.4881+3_4881+8delinsAAAGGT XP_016864819.1:n.4881+3_4881+8delinsAAAGG...
XM_017009331.1:c.4872+3_4872+8delinsAAAGGT XP_016864820.1:n.4872+3_4872+8delinsAAAGG...
NM_133433.4:c.6498+3_6498+8delinsAAAGGT MANE Select NP_597677.2:n.6498+3_6498+8delinsAAAGGT
NM_015384.5:c.6498+3_6498+8delinsAAAGGT NP_056199.2:n.6498+3_6498+8delinsAAAGGT