Canonical Allele Identifier: CA74768108

Gene: STAB1

Linked Data

• dbSNP Id: rs913144277
• gnomAD v3: 3-52506794-ACCATCCTGC-A
• gnomAD v4: 3-52506794-ACCATCCTGC-A
• MyVariant Identifiers: chr3:g.52540811_52540819del (hg19) ; chr3:g.52506795_52506803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506807_52506815del , CM000665.2:g.52506807_52506815del	GRCh38
NC_000003.11:g.52540823_52540831del , CM000665.1:g.52540823_52540831del	GRCh37
NC_000003.10:g.52515863_52515871del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321725.10:c.1946_1954del MANE Select	ENSP00000312946.6:p.Ile649_Pro651del
ENST00000481607.1:n.2001_2009del
NM_015136.2:c.1946_1954del	NP_055951.2:p.Ile649_Pro651del
XM_005264973.2:c.1946_1954del	XP_005265030.1:p.Ile649_Pro651del
XM_005264974.2:c.1946_1954del	XP_005265031.1:p.Ile649_Pro651del
XM_005264975.2:c.1946_1954del	XP_005265032.1:p.Ile649_Pro651del
XM_006713065.1:c.1946_1954del	XP_006713128.1:p.Ile649_Pro651del
XM_011533528.1:c.1946_1954del	XP_011531830.1:p.Ile649_Pro651del
XR_940395.1:n.2022_2030del
XM_005264973.3:c.1946_1954del	XP_005265030.1:p.Ile649_Pro651del
XM_017005998.1:c.1946_1954del	XP_016861487.1:p.Ile649_Pro651del
XM_017005999.1:c.1946_1954del	XP_016861488.1:p.Ile649_Pro651del
XM_017006000.1:c.1946_1954del	XP_016861489.1:p.Ile649_Pro651del
XM_017006001.1:c.1946_1954del	XP_016861490.1:p.Ile649_Pro651del
XM_017006002.1:c.1946_1954del	XP_016861491.1:p.Ile649_Pro651del
XM_017006003.1:c.1946_1954del	XP_016861492.1:p.Ile649_Pro651del
XM_017006004.2:c.1946_1954del	XP_016861493.1:p.Ile649_Pro651del
XR_001740064.1:n.2022_2030del
NM_015136.3:c.1946_1954del MANE Select	NP_055951.2:p.Ile649_Pro651del