Canonical Allele Identifier: CA2575177244

Gene: HOXC9 HOXC6

Linked Data

• gnomAD v4: 12-54000721-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000725del , CM000674.2:g.54000725del	GRCh38
NC_000012.11:g.54394509del , CM000674.1:g.54394509del	GRCh37
NC_000012.10:g.52680776del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.537del (HOXC9) MANE Select	ENSP00000302836.4:p.Ser180AlafsTer?
ENST00000303450.4:c.537del (HOXC9)	ENSP00000302836.4:p.Ser180AlafsTer?
ENST00000504315.1:c.-193+9911del (HOXC6)	ENSP00000424124.1:n.-193+9911del
ENST00000504557.1:n.123-1705del (HOXC9)
ENST00000508190.1:c.537del (HOXC9)	ENSP00000423861.1:p.Ser180AlafsTer?
ENST00000509328.1:c.-73+5709del (HOXC6)	ENSP00000423898.1:n.-73+5709del
ENST00000513209.1:c.166+14715del	ENSP00000476742.1:n.166+14715del
NM_006897.1:c.537del (HOXC9)	NP_008828.1:p.Ser180AlafsTer?
NM_006897.2:c.537del (HOXC9)	NP_008828.1:p.Ser180AlafsTer?
NM_006897.3:c.537del (HOXC9) MANE Select	NP_008828.1:p.Ser180AlafsTer?