Canonical Allele Identifier: CA916082502

Gene: CHM

Linked Data

• ClinVar Variation Id: 860171
• ClinVar RCV Id: RCV001066435
• dbSNP Id: rs1930435561

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963927_85963930dup , CM000685.2:g.85963927_85963930dup	GRCh38
NC_000023.10:g.85218932_85218935dup , CM000685.1:g.85218932_85218935dup	GRCh37
NC_000023.9:g.85105588_85105591dup	NCBI36
NG_009874.2:g.88633_88636dup , LRG_699:g.88633_88636dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.437_440dup MANE Select	ENSP00000350386.2:p.Thr148LysfsTer6
ENST00000357749.6:c.437_440dup	ENSP00000350386.2:p.Thr148LysfsTer6
ENST00000467744.2:n.126+63561_126+63564dup
NM_000390.2:c.437_440dup , LRG_699t1:c.437_440dup	NP_000381.1:p.Thr148LysfsTer6
XM_006724615.2:c.374_377dup	XP_006724678.1:p.Thr127LysfsTer6
XM_011530839.1:c.-8_-5dup	XP_011529141.1:n.-8_-5dup
NM_000390.3:c.437_440dup	NP_000381.1:p.Thr148LysfsTer6
NM_001320959.1:c.-8_-5dup	NP_001307888.1:n.-8_-5dup
NM_001362517.1:c.-8_-5dup	NP_001349446.1:n.-8_-5dup
NM_001362518.1:c.-8_-5dup	NP_001349447.1:n.-8_-5dup
NM_001362519.1:c.-8_-5dup	NP_001349448.1:n.-8_-5dup
XM_017029242.2:c.437_440dup	XP_016884731.1:p.Thr148LysfsTer6
XM_017029246.1:c.-8_-5dup	XP_016884735.1:n.-8_-5dup
XM_024452331.1:c.-8_-5dup	XP_024308099.1:n.-8_-5dup
NM_000390.4:c.437_440dup MANE Select	NP_000381.1:p.Thr148LysfsTer6
NM_001362518.2:c.-8_-5dup	NP_001349447.1:n.-8_-5dup