Canonical Allele Identifier: CA644175157

Gene: ELF4

Linked Data

• dbSNP Id: rs1241362521
• gnomAD v2: X-129199848-GGCCCAAGATTCCA-G
• gnomAD v3: X-130065873-GGCCCAAGATTCCA-G
• gnomAD v4: X-130065873-GGCCCAAGATTCCA-G
• MyVariant Identifiers: chrX:g.129199849_129199861del (hg19) ; chrX:g.130065874_130065886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130065877_130065889del , CM000685.2:g.130065877_130065889del	GRCh38
NC_000023.10:g.129199852_129199864del , CM000685.1:g.129199852_129199864del	GRCh37
NC_000023.9:g.129027533_129027545del	NCBI36
NG_016388.1:g.49828_49840del , LRG_335:g.49828_49840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308167.10:c.*835_*847del MANE Select	ENSP00000311280.6:n.*835_*847del
ENST00000308167.9:c.*835_*847del	ENSP00000311280.5:n.*835_*847del
ENST00000335997.11:c.*835_*847del	ENSP00000338608.7:n.*835_*847del
ENST00000615377.4:c.*835_*847del	ENSP00000478297.1:n.*835_*847del
NM_001127197.1:c.*835_*847del	NP_001120669.1:n.*835_*847del
NM_001421.3:c.*835_*847del , LRG_335t1:c.*835_*847del	NP_001412.1:n.*835_*847del
XM_005262389.2:c.*835_*847del	XP_005262446.1:n.*835_*847del
XM_011531307.1:c.*835_*847del	XP_011529609.1:n.*835_*847del
XM_011531308.1:c.*835_*847del	XP_011529610.1:n.*835_*847del
XM_005262389.3:c.*835_*847del	XP_005262446.1:n.*835_*847del
XM_011531307.3:c.*835_*847del	XP_011529609.1:n.*835_*847del
XM_011531308.3:c.*835_*847del	XP_011529610.1:n.*835_*847del
NM_001127197.2:c.*835_*847del	NP_001120669.1:n.*835_*847del
NM_001421.4:c.*835_*847del MANE Select	NP_001412.1:n.*835_*847del