Canonical Allele Identifier: CA2620715774

Gene: SART3

Linked Data

• gnomAD v4: 12-108530285-A-ACTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.108530286_108530287insTTTTC , CM000674.2:g.108530286_108530287insTTTTC	GRCh38
NC_000012.11:g.108924063_108924064insTTTTC , CM000674.1:g.108924063_108924064insTTTTC	GRCh37
NC_000012.10:g.107448193_107448194insTTTTC	NCBI36
NG_012155.1:g.36103_36104insAAAAG
NG_012155.2:g.36104_36105insAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000228284.8:c.1825_1826insAAAAG	ENSP00000228284.4:p.Val609GlufsTer23
ENST00000546815.6:c.1771_1772insAAAAG MANE Select	ENSP00000449386.2:p.Val591GlufsTer23
ENST00000651280.1:c.*927_*928insAAAAG	ENSP00000498612.1:n.*927_*928insAAAAG
ENST00000228284.7:c.1771_1772insAAAAG	ENSP00000228284.3:p.Val591GlufsTer23
ENST00000431469.6:c.1663_1664insAAAAG	ENSP00000414453.2:p.Val555GlufsTer23
ENST00000546728.5:c.*665_*666insAAAAG	ENSP00000449743.1:n.*665_*666insAAAAG
ENST00000546815.5:c.1825_1826insAAAAG	ENSP00000449386.1:p.Val609GlufsTer23
ENST00000547528.5:c.*935_*936insAAAAG	ENSP00000446577.1:n.*935_*936insAAAAG
ENST00000548582.5:n.498_499insAAAAG
ENST00000619503.4:n.707_708insAAAAG
NM_014706.3:c.1771_1772insAAAAG	NP_055521.1:p.Val591GlufsTer23
XM_005269241.3:c.1825_1826insAAAAG	XP_005269298.1:p.Val609GlufsTer23
XM_011539026.1:c.907_908insAAAAG	XP_011537328.1:p.Val303GlufsTer23
NM_014706.4:c.1771_1772insAAAAG MANE Select	NP_055521.1:p.Val591GlufsTer23
XM_005269241.5:c.1825_1826insAAAAG	XP_005269298.1:p.Val609GlufsTer23
XM_024449284.1:c.907_908insAAAAG	XP_024305052.1:p.Val303GlufsTer23