Canonical Allele Identifier: CA2673551298

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37016186-T-TACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37016186_37016187insACCA , CM000667.2:g.37016186_37016187insACCA	GRCh38
NC_000005.9:g.37016288_37016289insACCA , CM000667.1:g.37016288_37016289insACCA	GRCh37
NC_000005.8:g.37052045_37052046insACCA	NCBI36
NG_006987.1:g.144304_144305insACCA
NG_006987.2:g.144304_144305insACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4776+16_4776+17insACCA MANE Select	ENSP00000282516.8:n.4776+16_4776+17insACCA
ENST00000652901.1:c.4776+16_4776+17insACCA	ENSP00000499536.1:n.4776+16_4776+17insACCA
ENST00000282516.12:c.4776+16_4776+17insACCA	ENSP00000282516.8:n.4776+16_4776+17insACCA
ENST00000448238.2:c.4776+16_4776+17insACCA	ENSP00000406266.2:n.4776+16_4776+17insACCA
ENST00000621733.1:c.1-48392_1-48391insACCA	ENSP00000480694.1:n.1-48392_1-48391insACCA
NM_015384.4:c.4776+16_4776+17insACCA	NP_056199.2:n.4776+16_4776+17insACCA
NM_133433.3:c.4776+16_4776+17insACCA	NP_597677.2:n.4776+16_4776+17insACCA
XM_005248280.2:c.4776+16_4776+17insACCA	XP_005248337.1:n.4776+16_4776+17insACCA
XM_005248282.3:c.4032+16_4032+17insACCA	XP_005248339.2:n.4032+16_4032+17insACCA
XM_006714467.2:c.4776+16_4776+17insACCA	XP_006714530.1:n.4776+16_4776+17insACCA
XM_006714468.1:c.4578+16_4578+17insACCA	XP_006714531.1:n.4578+16_4578+17insACCA
XM_011514014.1:c.4395+16_4395+17insACCA	XP_011512316.1:n.4395+16_4395+17insACCA
XM_011514015.1:c.4776+16_4776+17insACCA	XP_011512317.1:n.4776+16_4776+17insACCA
XM_005248280.3:c.4776+16_4776+17insACCA	XP_005248337.1:n.4776+16_4776+17insACCA
XM_005248282.5:c.4116+16_4116+17insACCA	XP_005248339.3:n.4116+16_4116+17insACCA
XM_006714468.2:c.4578+16_4578+17insACCA	XP_006714531.1:n.4578+16_4578+17insACCA
XM_017009329.1:c.4776+16_4776+17insACCA	XP_016864818.1:n.4776+16_4776+17insACCA
XM_017009330.2:c.3159+16_3159+17insACCA	XP_016864819.1:n.3159+16_3159+17insACCA
XM_017009331.1:c.3150+16_3150+17insACCA	XP_016864820.1:n.3150+16_3150+17insACCA
NM_133433.4:c.4776+16_4776+17insACCA MANE Select	NP_597677.2:n.4776+16_4776+17insACCA
NM_015384.5:c.4776+16_4776+17insACCA	NP_056199.2:n.4776+16_4776+17insACCA