Canonical Allele Identifier: CA10012486

Gene: ITSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33883696T>A , CM000683.2:g.33883696T>A	GRCh38
NC_000021.8:g.35256000T>A , CM000683.1:g.35256000T>A	GRCh37
NC_000021.7:g.34177870T>A	NCBI36
NG_029504.1:g.246217T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003024.3:c.4676+25T>A MANE Select	NP_003015.2:n.4676+25T>A
ENST00000381318.8:c.4676+25T>A MANE Select	ENSP00000370719.3:n.4676+25T>A
NM_001331010.1:c.4661+25T>A	NP_001317939.1:n.4661+25T>A
NM_001331010.2:c.4661+25T>A	NP_001317939.1:n.4661+25T>A
NM_003024.2:c.4676+25T>A	NP_003015.2:n.4676+25T>A
ENST00000381284.7:c.714+25T>A
ENST00000381285.8:c.*1710+25T>A	ENSP00000370685.5:n.*1710+25T>A
ENST00000381318.7:c.4676+25T>A	ENSP00000370719.3:n.4676+25T>A
ENST00000399367.7:c.4661+25T>A	ENSP00000382301.3:n.4661+25T>A
ENST00000415023.1:c.284+25T>A	ENSP00000409800.1:n.284+25T>A
ENST00000420666.1:c.165-1345T>A
ENST00000429238.2:c.441+23645A>T	ENSP00000394107.2:n.441+23645A>T
XM_005261026.1:c.4661+25T>A	XP_005261083.1:n.4661+25T>A
XM_017028428.1:c.4676+25T>A	XP_016883917.1:n.4676+25T>A
XM_017028429.2:c.4565+25T>A	XP_016883918.1:n.4565+25T>A
XM_017028430.2:c.4550+25T>A	XP_016883919.1:n.4550+25T>A
XM_017028431.2:c.4508+25T>A	XP_016883920.1:n.4508+25T>A
XM_017028432.2:c.4493+25T>A	XP_016883921.1:n.4493+25T>A
XM_017028433.2:c.4463+25T>A	XP_016883922.1:n.4463+25T>A
XM_017028434.2:c.4448+25T>A	XP_016883923.1:n.4448+25T>A
XM_017028435.2:c.4352+25T>A	XP_016883924.1:n.4352+25T>A
XM_017028436.2:c.4337+25T>A	XP_016883925.1:n.4337+25T>A
XM_017028437.1:c.3068+25T>A	XP_016883926.1:n.3068+25T>A
XR_001754890.2:n.4787+25T>A