Canonical Allele Identifier: CA2740891418

Gene: NUP205

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645049_135645050insAATTTTTAATGAAAAACTAC , CM000669.2:g.135645049_135645050insAATTTTTAATGAAAAACTAC	GRCh38
NC_000007.13:g.135329797_135329798insAATTTTTAATGAAAAACTAC , CM000669.1:g.135329797_135329798insAATTTTTAATGAAAAACTAC	GRCh37
NC_000007.12:g.134980337_134980338insAATTTTTAATGAAAAACTAC	NCBI36
NG_051184.1:g.92136_92137insAATTTTTAATGAAAAACTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+31_5683+32insAATTTTTAATGAAAAACTAC MANE Select	ENSP00000285968.6:n.5683+31_5683+32insAATTTTTAATGAAAAACTAC
ENST00000285968.10:c.5683+31_5683+32insAATTTTTAATGAAAAACTAC	ENSP00000285968.6:n.5683+31_5683+32insAATTTTTAATGAAAAACTAC
ENST00000461255.5:n.890+31_890+32insAATTTTTAATGAAAAACTAC
ENST00000477620.5:c.1405+71_1405+72insAATTTTTAATGAAAAACTAC
ENST00000490439.1:c.120+31_120+32insAATTTTTAATGAAAAACTAC
ENST00000607647.5:n.3961+31_3961+32insAATTTTTAATGAAAAACTAC
NM_015135.2:c.5683+31_5683+32insAATTTTTAATGAAAAACTAC	NP_055950.1:n.5683+31_5683+32insAATTTTTAATGAAAAACTAC
XM_005250235.2:c.4609+31_4609+32insAATTTTTAATGAAAAACTAC	XP_005250292.1:n.4609+31_4609+32insAATTTTTAATGAAAAACTAC
NM_001329434.1:c.4609+31_4609+32insAATTTTTAATGAAAAACTAC	NP_001316363.1:n.4609+31_4609+32insAATTTTTAATGAAAAACTAC
NM_015135.3:c.5683+31_5683+32insAATTTTTAATGAAAAACTAC MANE Select	NP_055950.2:n.5683+31_5683+32insAATTTTTAATGAAAAACTAC
NM_001329434.2:c.4609+31_4609+32insAATTTTTAATGAAAAACTAC	NP_001316363.2:n.4609+31_4609+32insAATTTTTAATGAAAAACTAC