Canonical Allele Identifier: CA714048617

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs1225123383
• gnomAD v3: 15-55497817-GA-G
• gnomAD v4: 15-55497817-GA-G
• MyVariant Identifiers: chr15:g.55790016del (hg19) ; chr15:g.55497818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55497818del , CM000677.2:g.55497818del	GRCh38
NC_000015.9:g.55790016del , CM000677.1:g.55790016del	GRCh37
NC_000015.8:g.53577308del	NCBI36
NG_021213.1:g.15417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321149.7:c.165del (DNAAF4) MANE Select	ENSP00000323275.3:p.Ile57Ter
ENST00000348518.4:c.165del (DNAAF4)	ENSP00000299561.5:p.Ile57Ter
ENST00000448430.6:c.165del (DNAAF4)	ENSP00000403412.2:p.Ile57Ter
ENST00000457155.6:c.165del (DNAAF4)	ENSP00000402640.2:p.Ile57Ter
ENST00000519017.1:n.180del (DNAAF4)
ENST00000522437.1:c.124-8del (DNAAF4)	ENSP00000429219.1:n.124-8del
ENST00000524160.5:c.165del (DNAAF4)	ENSP00000428097.1:p.Ile57Ter
NM_001033559.2:c.165del (DNAAF4)	NP_001028731.1:p.Ile57Ter
NM_001033560.1:c.165del (DNAAF4)	NP_001028732.1:p.Ile57Ter
NM_130810.3:c.165del (DNAAF4)	NP_570722.2:p.Ile57Ter
NR_037923.1:n.420del (DNAAF4-CCPG1)
NM_130810.4:c.165del (DNAAF4) MANE Select	NP_570722.2:p.Ile57Ter
NM_001033559.3:c.165del (DNAAF4)	NP_001028731.1:p.Ile57Ter
NM_001033560.2:c.165del (DNAAF4)	NP_001028732.1:p.Ile57Ter