Canonical Allele Identifier: CA2442477990

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956081_85956091delinsTGCCTGCCTAA , CM000685.2:g.85956081_85956091delinsTGCCTGCCTAA	GRCh38
NC_000023.10:g.85211086_85211096delinsTGCCTGCCTAA , CM000685.1:g.85211086_85211096delinsTGCCTGCCTAA	GRCh37
NC_000023.9:g.85097742_85097752delinsTGCCTGCCTAA	NCBI36
NG_009874.2:g.96472_96482delinsTTAGGCAGGCA , LRG_699:g.96472_96482delinsTTAGGCAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1166+62_1166+72delinsTTAGGCAGGCA MANE Select	ENSP00000350386.2:n.1166+62_1166+72delinsTTAGGCAGGCA
ENST00000357749.6:c.1166+62_1166+72delinsTTAGGCAGGCA	ENSP00000350386.2:n.1166+62_1166+72delinsTTAGGCAGGCA
ENST00000467744.2:n.126+71400_126+71410delinsTTAGGCAGGCA
NM_000390.2:c.1166+62_1166+72delinsTTAGGCAGGCA , LRG_699t1:c.1166+62_1166+72delinsTTAGGCAGGCA	NP_000381.1:n.1166+62_1166+72delinsTTAGGCAGGCA
XM_006724615.2:c.1103+62_1103+72delinsTTAGGCAGGCA	XP_006724678.1:n.1103+62_1103+72delinsTTAGGCAGGCA
XM_011530839.1:c.722+62_722+72delinsTTAGGCAGGCA	XP_011529141.1:n.722+62_722+72delinsTTAGGCAGGCA
NM_000390.3:c.1166+62_1166+72delinsTTAGGCAGGCA	NP_000381.1:n.1166+62_1166+72delinsTTAGGCAGGCA
NM_001320959.1:c.722+62_722+72delinsTTAGGCAGGCA	NP_001307888.1:n.722+62_722+72delinsTTAGGCAGGCA
NM_001362517.1:c.722+62_722+72delinsTTAGGCAGGCA	NP_001349446.1:n.722+62_722+72delinsTTAGGCAGGCA
NM_001362518.1:c.722+62_722+72delinsTTAGGCAGGCA	NP_001349447.1:n.722+62_722+72delinsTTAGGCAGGCA
NM_001362519.1:c.722+62_722+72delinsTTAGGCAGGCA	NP_001349448.1:n.722+62_722+72delinsTTAGGCAGGCA
XM_017029242.2:c.1166+62_1166+72delinsTTAGGCAGGCA	XP_016884731.1:n.1166+62_1166+72delinsTTAGGCAGGCA
XM_017029246.1:c.722+62_722+72delinsTTAGGCAGGCA	XP_016884735.1:n.722+62_722+72delinsTTAGGCAGGCA
XM_024452331.1:c.722+62_722+72delinsTTAGGCAGGCA	XP_024308099.1:n.722+62_722+72delinsTTAGGCAGGCA
NM_000390.4:c.1166+62_1166+72delinsTTAGGCAGGCA MANE Select	NP_000381.1:n.1166+62_1166+72delinsTTAGGCAGGCA
NM_001362518.2:c.722+62_722+72delinsTTAGGCAGGCA	NP_001349447.1:n.722+62_722+72delinsTTAGGCAGGCA