Canonical Allele Identifier: CA2620715775

Gene: SART3

Linked Data

• gnomAD v4: 12-108530290-GGCTGCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530291_108530297del , CM000674.2:g.108530291_108530297del	GRCh38
NC_000012.11:g.108924068_108924074del , CM000674.1:g.108924068_108924074del	GRCh37
NC_000012.10:g.107448198_107448204del	NCBI36
NG_012155.1:g.36092_36098del
NG_012155.2:g.36093_36099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1814_1820del	ENSP00000228284.4:p.Glu605AlafsTer23
ENST00000546815.6:c.1760_1766del MANE Select	ENSP00000449386.2:p.Glu587AlafsTer23
ENST00000651280.1:c.*916_*922del	ENSP00000498612.1:n.*916_*922del
ENST00000228284.7:c.1760_1766del	ENSP00000228284.3:p.Glu587AlafsTer23
ENST00000431469.6:c.1652_1658del	ENSP00000414453.2:p.Glu551AlafsTer23
ENST00000546728.5:c.*654_*660del	ENSP00000449743.1:n.*654_*660del
ENST00000546815.5:c.1814_1820del	ENSP00000449386.1:p.Glu605AlafsTer23
ENST00000547528.5:c.*924_*930del	ENSP00000446577.1:n.*924_*930del
ENST00000548582.5:n.487_493del
ENST00000619503.4:n.696_702del
NM_014706.3:c.1760_1766del	NP_055521.1:p.Glu587AlafsTer23
XM_005269241.3:c.1814_1820del	XP_005269298.1:p.Glu605AlafsTer23
XM_011539026.1:c.896_902del	XP_011537328.1:p.Glu299AlafsTer23
NM_014706.4:c.1760_1766del MANE Select	NP_055521.1:p.Glu587AlafsTer23
XM_005269241.5:c.1814_1820del	XP_005269298.1:p.Glu605AlafsTer23
XM_024449284.1:c.896_902del	XP_024305052.1:p.Glu299AlafsTer23