Canonical Allele Identifier: CA2695234667

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956202_85956203del , CM000685.2:g.85956202_85956203del	GRCh38
NC_000023.10:g.85211207_85211208del , CM000685.1:g.85211207_85211208del	GRCh37
NC_000023.9:g.85097863_85097864del	NCBI36
NG_009874.2:g.96360_96361del , LRG_699:g.96360_96361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1116_1117del MANE Select	ENSP00000350386.2:p.Leu374ValfsTer?
ENST00000357749.6:c.1116_1117del	ENSP00000350386.2:p.Leu374ValfsTer?
ENST00000467744.2:n.126+71288_126+71289del
NM_000390.2:c.1116_1117del , LRG_699t1:c.1116_1117del	NP_000381.1:p.Leu374ValfsTer?
XM_006724615.2:c.1053_1054del	XP_006724678.1:p.Leu353ValfsTer?
XM_011530839.1:c.672_673del	XP_011529141.1:p.Leu226ValfsTer?
NM_000390.3:c.1116_1117del	NP_000381.1:p.Leu374ValfsTer?
NM_001320959.1:c.672_673del	NP_001307888.1:p.Leu226ValfsTer?
NM_001362517.1:c.672_673del	NP_001349446.1:p.Leu226ValfsTer?
NM_001362518.1:c.672_673del	NP_001349447.1:p.Leu226ValfsTer?
NM_001362519.1:c.672_673del	NP_001349448.1:p.Leu226ValfsTer?
XM_017029242.2:c.1116_1117del	XP_016884731.1:p.Leu374ValfsTer?
XM_017029246.1:c.672_673del	XP_016884735.1:p.Leu226ValfsTer?
XM_024452331.1:c.672_673del	XP_024308099.1:p.Leu226ValfsTer?
NM_000390.4:c.1116_1117del MANE Select	NP_000381.1:p.Leu374ValfsTer?
NM_001362518.2:c.672_673del	NP_001349447.1:p.Leu226ValfsTer?