Canonical Allele Identifier: CA760990765

Gene: CHN1

Linked Data

• dbSNP Id: rs1240043181
• gnomAD v4: 2-174800064-A-ATAAAACATTCCTTCATCTG
• MyVariant Identifiers: chr2:g.175664792_175664793insTAAAACATTCCTTCATCTG (hg19) ; chr2:g.174800064_174800065insTAAAACATTCCTTCATCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800074_174800092dup , CM000664.2:g.174800074_174800092dup	GRCh38
NC_000002.11:g.175664802_175664820dup , CM000664.1:g.175664802_175664820dup	GRCh37
NC_000002.10:g.175373048_175373066dup	NCBI36
NG_012642.1:g.210360_210378dup
NG_012642.2:g.210360_210378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*33_*51dup	ENSP00000295497.7:n.*33_*51dup
ENST00000295497.12:c.*33_*51dup	ENSP00000295497.7:n.*33_*51dup
ENST00000409900.9:c.*33_*51dup MANE Select	ENSP00000386741.4:n.*33_*51dup
ENST00000413882.6:c.*33_*51dup	ENSP00000410496.2:n.*33_*51dup
ENST00000443238.6:c.*33_*51dup	ENSP00000409798.2:n.*33_*51dup
ENST00000488080.6:n.1056_1074dup
ENST00000650731.1:c.*33_*51dup	ENSP00000499146.1:n.*33_*51dup
ENST00000650938.1:c.799_817dup
ENST00000651246.1:c.*33_*51dup	ENSP00000498484.1:n.*33_*51dup
ENST00000651501.1:c.*860_*878dup	ENSP00000498894.1:n.*860_*878dup
ENST00000651717.1:c.*689_*707dup	ENSP00000499124.1:n.*689_*707dup
ENST00000652036.1:c.*33_*51dup	ENSP00000499139.1:n.*33_*51dup
ENST00000295497.11:c.*33_*51dup	ENSP00000295497.7:n.*33_*51dup
ENST00000409156.7:c.*33_*51dup	ENSP00000386470.3:n.*33_*51dup
ENST00000409597.5:c.*33_*51dup	ENSP00000386469.1:n.*33_*51dup
ENST00000409900.7:c.*33_*51dup	ENSP00000386741.3:n.*33_*51dup
ENST00000488080.5:n.1264_1282dup
ENST00000492964.1:n.556_574dup
NM_001025201.3:c.*33_*51dup	NP_001020372.2:n.*33_*51dup
NM_001206602.1:c.*33_*51dup	NP_001193531.1:n.*33_*51dup
NM_001822.5:c.*33_*51dup	NP_001813.1:n.*33_*51dup
NR_038133.1:n.1279_1297dup
NM_001025201.4:c.*33_*51dup	NP_001020372.2:n.*33_*51dup
NM_001206602.2:c.*33_*51dup	NP_001193531.1:n.*33_*51dup
NM_001371513.1:c.*33_*51dup	NP_001358442.1:n.*33_*51dup
NM_001371514.1:c.*33_*51dup	NP_001358443.1:n.*33_*51dup
NM_001822.7:c.*33_*51dup MANE Select	NP_001813.1:n.*33_*51dup
NR_038133.2:n.1281_1299dup