Canonical Allele Identifier: CA10012411

Gene: ITSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33875569C>G , CM000683.2:g.33875569C>G	GRCh38
NC_000021.8:g.35247873C>G , CM000683.1:g.35247873C>G	GRCh37
NC_000021.7:g.34169743C>G	NCBI36
NG_029504.1:g.238090C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381318.8:c.4341+48C>G MANE Select	ENSP00000370719.3:n.4341+48C>G
ENST00000381284.7:c.380-6674C>G
ENST00000381285.8:c.*1375+48C>G	ENSP00000370685.5:n.*1375+48C>G
ENST00000381318.7:c.4341+48C>G	ENSP00000370719.3:n.4341+48C>G
ENST00000399367.7:c.4326+48C>G	ENSP00000382301.3:n.4326+48C>G
ENST00000415023.1:c.162+48C>G	ENSP00000409800.1:n.162+48C>G
ENST00000420666.1:c.164+48C>G
ENST00000429238.2:c.441+31772G>C	ENSP00000394107.2:n.441+31772G>C
NM_003024.2:c.4341+48C>G	NP_003015.2:n.4341+48C>G
XM_005261026.1:c.4326+48C>G	XP_005261083.1:n.4326+48C>G
NM_001331010.1:c.4326+48C>G	NP_001317939.1:n.4326+48C>G
XM_017028428.1:c.4341+48C>G	XP_016883917.1:n.4341+48C>G
XM_017028429.2:c.4230+48C>G	XP_016883918.1:n.4230+48C>G
XM_017028430.2:c.4215+48C>G	XP_016883919.1:n.4215+48C>G
XM_017028431.2:c.4174-6674C>G	XP_016883920.1:n.4174-6674C>G
XM_017028432.2:c.4159-6674C>G	XP_016883921.1:n.4159-6674C>G
XM_017028433.2:c.4128+48C>G	XP_016883922.1:n.4128+48C>G
XM_017028434.2:c.4113+48C>G	XP_016883923.1:n.4113+48C>G
XM_017028435.2:c.4017+48C>G	XP_016883924.1:n.4017+48C>G
XM_017028436.2:c.4002+48C>G	XP_016883925.1:n.4002+48C>G
XM_017028437.1:c.2733+48C>G	XP_016883926.1:n.2733+48C>G
XR_001754890.2:n.4452+48C>G
NM_003024.3:c.4341+48C>G MANE Select	NP_003015.2:n.4341+48C>G
NM_001331010.2:c.4326+48C>G	NP_001317939.1:n.4326+48C>G