Canonical Allele Identifier: CA2662021976

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800084-TAAAACATTTCTTTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800085_174800100del , CM000664.2:g.174800085_174800100del	GRCh38
NC_000002.11:g.175664813_175664828del , CM000664.1:g.175664813_175664828del	GRCh37
NC_000002.10:g.175373059_175373074del	NCBI36
NG_012642.1:g.210343_210358del
NG_012642.2:g.210343_210358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*16_*31del	ENSP00000295497.7:n.*16_*31del
ENST00000295497.12:c.*16_*31del	ENSP00000295497.7:n.*16_*31del
ENST00000409900.9:c.*16_*31del MANE Select	ENSP00000386741.4:n.*16_*31del
ENST00000413882.6:c.*16_*31del	ENSP00000410496.2:n.*16_*31del
ENST00000443238.6:c.*16_*31del	ENSP00000409798.2:n.*16_*31del
ENST00000488080.6:n.1039_1054del
ENST00000650731.1:c.*16_*31del	ENSP00000499146.1:n.*16_*31del
ENST00000650938.1:c.782_797del
ENST00000651246.1:c.*16_*31del	ENSP00000498484.1:n.*16_*31del
ENST00000651501.1:c.*843_*858del	ENSP00000498894.1:n.*843_*858del
ENST00000651717.1:c.*672_*687del	ENSP00000499124.1:n.*672_*687del
ENST00000652036.1:c.*16_*31del	ENSP00000499139.1:n.*16_*31del
ENST00000295497.11:c.*16_*31del	ENSP00000295497.7:n.*16_*31del
ENST00000409156.7:c.*16_*31del	ENSP00000386470.3:n.*16_*31del
ENST00000409597.5:c.*16_*31del	ENSP00000386469.1:n.*16_*31del
ENST00000409900.7:c.*16_*31del	ENSP00000386741.3:n.*16_*31del
ENST00000488080.5:n.1247_1262del
ENST00000492964.1:n.539_554del
NM_001025201.3:c.*16_*31del	NP_001020372.2:n.*16_*31del
NM_001206602.1:c.*16_*31del	NP_001193531.1:n.*16_*31del
NM_001822.5:c.*16_*31del	NP_001813.1:n.*16_*31del
NR_038133.1:n.1262_1277del
NM_001025201.4:c.*16_*31del	NP_001020372.2:n.*16_*31del
NM_001206602.2:c.*16_*31del	NP_001193531.1:n.*16_*31del
NM_001371513.1:c.*16_*31del	NP_001358442.1:n.*16_*31del
NM_001371514.1:c.*16_*31del	NP_001358443.1:n.*16_*31del
NM_001822.7:c.*16_*31del MANE Select	NP_001813.1:n.*16_*31del
NR_038133.2:n.1264_1279del