Canonical Allele Identifier: CA2694202098

Gene: CHM

Linked Data

• gnomAD v4: X-85879068-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879074_85879078dup , CM000685.2:g.85879074_85879078dup	GRCh38
NC_000023.10:g.85134079_85134083dup , CM000685.1:g.85134079_85134083dup	GRCh37
NC_000023.9:g.85020735_85020739dup	NCBI36
NG_009874.2:g.173490_173494dup , LRG_699:g.173490_173494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1511-10_1511-6dup MANE Select	ENSP00000350386.2:n.1511-10_1511-6dup
ENST00000357749.6:c.1511-10_1511-6dup	ENSP00000350386.2:n.1511-10_1511-6dup
ENST00000467744.2:n.127-15979_127-15975dup
NM_000390.2:c.1511-10_1511-6dup , LRG_699t1:c.1511-10_1511-6dup	NP_000381.1:n.1511-10_1511-6dup
XM_006724615.2:c.1448-10_1448-6dup	XP_006724678.1:n.1448-10_1448-6dup
XM_011530839.1:c.1067-10_1067-6dup	XP_011529141.1:n.1067-10_1067-6dup
NM_000390.3:c.1511-10_1511-6dup	NP_000381.1:n.1511-10_1511-6dup
NM_001320959.1:c.1067-10_1067-6dup	NP_001307888.1:n.1067-10_1067-6dup
NM_001362517.1:c.1067-10_1067-6dup	NP_001349446.1:n.1067-10_1067-6dup
NM_001362518.1:c.1067-10_1067-6dup	NP_001349447.1:n.1067-10_1067-6dup
NM_001362519.1:c.1067-10_1067-6dup	NP_001349448.1:n.1067-10_1067-6dup
XM_017029242.2:c.1511-10_1511-6dup	XP_016884731.1:n.1511-10_1511-6dup
XM_017029246.1:c.1067-10_1067-6dup	XP_016884735.1:n.1067-10_1067-6dup
XM_024452331.1:c.1067-10_1067-6dup	XP_024308099.1:n.1067-10_1067-6dup
NM_000390.4:c.1511-10_1511-6dup MANE Select	NP_000381.1:n.1511-10_1511-6dup
NM_001362518.2:c.1067-10_1067-6dup	NP_001349447.1:n.1067-10_1067-6dup