Canonical Allele Identifier: CA5796026

Gene: MUC6

Linked Data

• dbSNP Id: rs751642713
• ExAC: 11:1018172 GGTA / G
• gnomAD v2: 11-1018172-GGTA-G
• gnomAD v3: 11-1018172-GGTA-G
• gnomAD v4: 11-1018172-GGTA-G
• COSMIC: COSM4771432
• MyVariant Identifiers: chr11:g.1018173_1018175del (hg19) ; chr11:g.1018173_1018175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1018177_1018179del , CM000673.2:g.1018177_1018179del	GRCh38
NC_000011.9:g.1018177_1018179del , CM000673.1:g.1018177_1018179del	GRCh37
NC_000011.8:g.1008177_1008179del	NCBI36
NG_052845.1:g.23532_23534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421673.7:c.4626_4628del MANE Select	ENSP00000406861.2:p.Thr1543del
ENST00000421673.6:c.4626_4628del	ENSP00000406861.2:p.Thr1543del
NM_005961.2:c.4626_4628del	NP_005952.2:p.Thr1543del
NM_005961.3:c.4626_4628del MANE Select	NP_005952.2:p.Thr1543del