Canonical Allele Identifier: CA563058192

Gene: AFF4

Linked Data

• dbSNP Id: rs1334256876
• gnomAD v2: 5-132227782-GCACAGTGT-G
• gnomAD v4: 5-132892090-GCACAGTGT-G
• MyVariant Identifiers: chr5:g.132227783_132227790del (hg19) ; chr5:g.132892091_132892098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132892094_132892101del , CM000667.2:g.132892094_132892101del	GRCh38
NC_000005.9:g.132227786_132227793del , CM000667.1:g.132227786_132227793del	GRCh37
NC_000005.8:g.132255685_132255692del	NCBI36
NG_030340.1:g.76565_76572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265343.10:c.2637+66_2637+73del MANE Select	ENSP00000265343.5:n.2637+66_2637+73del
ENST00000265343.9:c.2637+66_2637+73del	ENSP00000265343.5:n.2637+66_2637+73del
ENST00000378595.7:c.2703_*7del	ENSP00000367858.3:n.[c.2703_*7del;Ter901CysextTer10]
NM_014423.3:c.2637+66_2637+73del	NP_055238.1:n.2637+66_2637+73del
XM_005271963.3:c.2637+66_2637+73del	XP_005272020.1:n.2637+66_2637+73del
XM_005271964.3:c.1503+66_1503+73del	XP_005272021.1:n.1503+66_1503+73del
XM_006714587.2:c.2550+66_2550+73del	XP_006714650.1:n.2550+66_2550+73del
XM_005271963.5:c.2637+66_2637+73del	XP_005272020.1:n.2637+66_2637+73del
XM_005271964.4:c.1503+66_1503+73del	XP_005272021.1:n.1503+66_1503+73del
XM_006714587.4:c.2550+66_2550+73del	XP_006714650.1:n.2550+66_2550+73del
NM_014423.4:c.2637+66_2637+73del MANE Select	NP_055238.1:n.2637+66_2637+73del