Canonical Allele Identifier: CA10454923

Gene: NEXMIF

Linked Data

• dbSNP Id: rs778917289
• ExAC: X:73960761 GTTT / G
• gnomAD v2: X-73960761-GTTT-G
• gnomAD v4: X-74740926-GTTT-G
• MyVariant Identifiers: chrX:g.73960762_73960764del (hg19) ; chrX:g.74740927_74740929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740929_74740931del , CM000685.2:g.74740929_74740931del	GRCh38
NC_000023.10:g.73960764_73960766del , CM000685.1:g.73960764_73960766del	GRCh37
NC_000023.9:g.73877489_73877491del	NCBI36
NG_027726.1:g.189524_189526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.3628_3630del MANE Select	ENSP00000055682.5:p.Lys1210del
ENST00000616200.2:c.3628_3630del	ENSP00000480284.1:p.Lys1210del
ENST00000642681.2:c.3628_3630del	ENSP00000495800.1:p.Lys1210del
ENST00000055682.10:c.3628_3630del	ENSP00000055682.5:p.Lys1210del
ENST00000616200.1:c.3628_3630del	ENSP00000480284.1:p.Lys1210del
NM_001008537.2:c.3628_3630del	NP_001008537.1:p.Lys1210del
XM_011530935.1:c.3628_3630del	XP_011529237.1:p.Lys1210del
NM_001008537.3:c.3628_3630del MANE Select	NP_001008537.1:p.Lys1210del