Canonical Allele Identifier: CA2520450738

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963509_85963510del , CM000685.2:g.85963509_85963510del	GRCh38
NC_000023.10:g.85218514_85218515del , CM000685.1:g.85218514_85218515del	GRCh37
NC_000023.9:g.85105170_85105171del	NCBI36
NG_009874.2:g.89056_89057del , LRG_699:g.89056_89057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.702+158_702+159del MANE Select	ENSP00000350386.2:n.702+158_702+159del
ENST00000357749.6:c.702+158_702+159del	ENSP00000350386.2:n.702+158_702+159del
ENST00000467744.2:n.126+63984_126+63985del
NM_000390.2:c.702+158_702+159del , LRG_699t1:c.702+158_702+159del	NP_000381.1:n.702+158_702+159del
XM_006724615.2:c.639+158_639+159del	XP_006724678.1:n.639+158_639+159del
XM_011530839.1:c.258+158_258+159del	XP_011529141.1:n.258+158_258+159del
NM_000390.3:c.702+158_702+159del	NP_000381.1:n.702+158_702+159del
NM_001320959.1:c.258+158_258+159del	NP_001307888.1:n.258+158_258+159del
NM_001362517.1:c.258+158_258+159del	NP_001349446.1:n.258+158_258+159del
NM_001362518.1:c.258+158_258+159del	NP_001349447.1:n.258+158_258+159del
NM_001362519.1:c.258+158_258+159del	NP_001349448.1:n.258+158_258+159del
XM_017029242.2:c.702+158_702+159del	XP_016884731.1:n.702+158_702+159del
XM_017029246.1:c.258+158_258+159del	XP_016884735.1:n.258+158_258+159del
XM_024452331.1:c.258+158_258+159del	XP_024308099.1:n.258+158_258+159del
NM_000390.4:c.702+158_702+159del MANE Select	NP_000381.1:n.702+158_702+159del
NM_001362518.2:c.258+158_258+159del	NP_001349447.1:n.258+158_258+159del