Canonical Allele Identifier: CA1308854848

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800064_174800083delinsATAAAACATTCCTTCATCTG , CM000664.2:g.174800064_174800083delinsATAAAACATTCCTTCATCTG	GRCh38
NC_000002.11:g.175664792_175664811delinsATAAAACATTCCTTCATCTG , CM000664.1:g.175664792_175664811delinsATAAAACATTCCTTCATCTG	GRCh37
NC_000002.10:g.175373038_175373057delinsATAAAACATTCCTTCATCTG	NCBI36
NG_012642.1:g.210360_210379delinsCAGATGAAGGAATGTTTTAT
NG_012642.2:g.210360_210379delinsCAGATGAAGGAATGTTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000295497.7:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000295497.12:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000295497.7:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000409900.9:c.*33_*52delinsCAGATGAAGGAATGTTTTAT MANE Select	ENSP00000386741.4:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000413882.6:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000410496.2:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000443238.6:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000409798.2:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000488080.6:n.1056_1075delinsCAGATGAAGGAATGTTTTAT
ENST00000650731.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000499146.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000650938.1:c.799_818delinsCAGATGAAGGAATGTTTTAT
ENST00000651246.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000498484.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000651501.1:c.*860_*879delinsCAGATGAAGGAATGTTTTAT	ENSP00000498894.1:n.*860_*879delinsCAGATGAAGGAATGTTTTAT
ENST00000651717.1:c.*689_*708delinsCAGATGAAGGAATGTTTTAT	ENSP00000499124.1:n.*689_*708delinsCAGATGAAGGAATGTTTTAT
ENST00000652036.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000499139.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000295497.11:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000295497.7:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000409156.7:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000386470.3:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000409597.5:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000386469.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000409900.7:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	ENSP00000386741.3:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
ENST00000488080.5:n.1264_1283delinsCAGATGAAGGAATGTTTTAT
ENST00000492964.1:n.556_575delinsCAGATGAAGGAATGTTTTAT
NM_001025201.3:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001020372.2:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001206602.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001193531.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001822.5:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001813.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NR_038133.1:n.1279_1298delinsCAGATGAAGGAATGTTTTAT
NM_001025201.4:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001020372.2:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001206602.2:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001193531.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001371513.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001358442.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001371514.1:c.*33_*52delinsCAGATGAAGGAATGTTTTAT	NP_001358443.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NM_001822.7:c.*33_*52delinsCAGATGAAGGAATGTTTTAT MANE Select	NP_001813.1:n.*33_*52delinsCAGATGAAGGAATGTTTTAT
NR_038133.2:n.1281_1300delinsCAGATGAAGGAATGTTTTAT