Canonical Allele Identifier: CA2242009287
Gene: MC1R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919307_89919308delinsAC , CM000678.2:g.89919307_89919308delinsAC GRCh38
NC_000016.9:g.89985715_89985716delinsAC , CM000678.1:g.89985715_89985716delinsAC GRCh37
NC_000016.8:g.88513216_88513217delinsAC NCBI36
NG_012026.1:g.6429_6430delinsAC
NG_027810.1:g.2299_2300delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.49_50delinsAC MANE Select ENSP00000451605.1:p.Thr17=
ENST00000639847.1:c.49_50delinsAC ENSP00000492011.1:p.Thr17=
ENST00000555147.1:c.49_50delinsAC ENSP00000451605.1:p.Thr17=
ENST00000555427.1:c.49_50delinsAC ENSP00000451760.1:p.Thr17=
ENST00000556922.1:c.49_50delinsAC ENSP00000451560.1:p.Thr17=
NM_002386.3:c.49_50delinsAC NP_002377.4:p.Thr17=
NM_002386.4:c.49_50delinsAC MANE Select NP_002377.4:p.Thr17=
Search 100 bp 5'
Search 100 bp 3'