Canonical Allele Identifier: CA725761868
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1198390842
gnomAD v3: 16-89919790-CTCT-C
gnomAD v4: 16-89919790-CTCT-C
MyVariant Identifiers: chr16:g.89986199_89986201del (hg19) chr16:g.89919791_89919793del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919793_89919795del , CM000678.2:g.89919793_89919795del GRCh38
NC_000016.9:g.89986201_89986203del , CM000678.1:g.89986201_89986203del GRCh37
NC_000016.8:g.88513702_88513704del NCBI36
NG_012026.1:g.6915_6917del
NG_027810.1:g.2785_2787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.535_537del MANE Select ENSP00000451605.1:p.Phe179del
ENST00000639847.1:c.535_537del ENSP00000492011.1:p.Phe179del
ENST00000555147.1:c.535_537del ENSP00000451605.1:p.Phe179del
ENST00000555427.1:c.535_537del ENSP00000451760.1:p.Phe179del
ENST00000556922.1:c.535_537del ENSP00000451560.1:p.Phe179del
NM_002386.3:c.535_537del NP_002377.4:p.Phe179del
NM_002386.4:c.535_537del MANE Select NP_002377.4:p.Phe179del
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