Canonical Allele Identifier: CA60838186

Gene: CHN1

Linked Data

• dbSNP Id: rs1044347326
• gnomAD v4: 2-174800421-CTG-C
• MyVariant Identifiers: chr2:g.175665150_175665151del (hg19) ; chr2:g.174800422_174800423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800423_174800424del , CM000664.2:g.174800423_174800424del	GRCh38
NC_000002.11:g.175665151_175665152del , CM000664.1:g.175665151_175665152del	GRCh37
NC_000002.10:g.175373397_175373398del	NCBI36
NG_012642.1:g.210020_210021del
NG_012642.2:g.210020_210021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834-136_834-135del	ENSP00000295497.7:n.834-136_834-135del
ENST00000444394.7:c.963-136_963-135del	ENSP00000411911.2:n.963-136_963-135del
ENST00000295497.12:c.834-136_834-135del	ENSP00000295497.7:n.834-136_834-135del
ENST00000409089.7:c.585-136_585-135del	ENSP00000386322.3:n.585-136_585-135del
ENST00000409900.9:c.1209-136_1209-135del MANE Select	ENSP00000386741.4:n.1209-136_1209-135del
ENST00000413882.6:c.663-136_663-135del	ENSP00000410496.2:n.663-136_663-135del
ENST00000443238.6:c.687-136_687-135del	ENSP00000409798.2:n.687-136_687-135del
ENST00000444394.6:c.963-136_963-135del	ENSP00000411911.2:n.963-136_963-135del
ENST00000488080.6:n.852-136_852-135del
ENST00000650731.1:c.534-136_534-135del	ENSP00000499146.1:n.534-136_534-135del
ENST00000650938.1:c.595-136_595-135del
ENST00000651246.1:c.801-136_801-135del	ENSP00000498484.1:n.801-136_801-135del
ENST00000651501.1:c.*656-136_*656-135del	ENSP00000498894.1:n.*656-136_*656-135del
ENST00000651717.1:c.*485-136_*485-135del	ENSP00000499124.1:n.*485-136_*485-135del
ENST00000652036.1:c.885-136_885-135del	ENSP00000499139.1:n.885-136_885-135del
ENST00000295497.11:c.834-136_834-135del	ENSP00000295497.7:n.834-136_834-135del
ENST00000409156.7:c.1131-136_1131-135del	ENSP00000386470.3:n.1131-136_1131-135del
ENST00000409597.5:c.657-136_657-135del	ENSP00000386469.1:n.657-136_657-135del
ENST00000409900.7:c.1209-136_1209-135del	ENSP00000386741.3:n.1209-136_1209-135del
ENST00000488080.5:n.1060-136_1060-135del
ENST00000492964.1:n.352-136_352-135del
NM_001025201.3:c.1131-136_1131-135del	NP_001020372.2:n.1131-136_1131-135del
NM_001206602.1:c.834-136_834-135del	NP_001193531.1:n.834-136_834-135del
NM_001822.5:c.1209-136_1209-135del	NP_001813.1:n.1209-136_1209-135del
NR_038133.1:n.1075-136_1075-135del
NM_001025201.4:c.1131-136_1131-135del	NP_001020372.2:n.1131-136_1131-135del
NM_001206602.2:c.834-136_834-135del	NP_001193531.1:n.834-136_834-135del
NM_001371513.1:c.1209-136_1209-135del	NP_001358442.1:n.1209-136_1209-135del
NM_001371514.1:c.1260-136_1260-135del	NP_001358443.1:n.1260-136_1260-135del
NM_001822.7:c.1209-136_1209-135del MANE Select	NP_001813.1:n.1209-136_1209-135del
NR_038133.2:n.1077-136_1077-135del