Canonical Allele Identifier: CA2694203915

Gene: CHM

Linked Data

• gnomAD v4: X-85963554-GCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963558_85963560del , CM000685.2:g.85963558_85963560del	GRCh38
NC_000023.10:g.85218563_85218565del , CM000685.1:g.85218563_85218565del	GRCh37
NC_000023.9:g.85105219_85105221del	NCBI36
NG_009874.2:g.89006_89008del , LRG_699:g.89006_89008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.702+108_702+110del MANE Select	ENSP00000350386.2:n.702+108_702+110del
ENST00000357749.6:c.702+108_702+110del	ENSP00000350386.2:n.702+108_702+110del
ENST00000467744.2:n.126+63934_126+63936del
NM_000390.2:c.702+108_702+110del , LRG_699t1:c.702+108_702+110del	NP_000381.1:n.702+108_702+110del
XM_006724615.2:c.639+108_639+110del	XP_006724678.1:n.639+108_639+110del
XM_011530839.1:c.258+108_258+110del	XP_011529141.1:n.258+108_258+110del
NM_000390.3:c.702+108_702+110del	NP_000381.1:n.702+108_702+110del
NM_001320959.1:c.258+108_258+110del	NP_001307888.1:n.258+108_258+110del
NM_001362517.1:c.258+108_258+110del	NP_001349446.1:n.258+108_258+110del
NM_001362518.1:c.258+108_258+110del	NP_001349447.1:n.258+108_258+110del
NM_001362519.1:c.258+108_258+110del	NP_001349448.1:n.258+108_258+110del
XM_017029242.2:c.702+108_702+110del	XP_016884731.1:n.702+108_702+110del
XM_017029246.1:c.258+108_258+110del	XP_016884735.1:n.258+108_258+110del
XM_024452331.1:c.258+108_258+110del	XP_024308099.1:n.258+108_258+110del
NM_000390.4:c.702+108_702+110del MANE Select	NP_000381.1:n.702+108_702+110del
NM_001362518.2:c.258+108_258+110del	NP_001349447.1:n.258+108_258+110del