Canonical Allele Identifier: CA2808106065

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919684_89919685insCACCCCCAAACACACCCAA , CM000678.2:g.89919684_89919685insCACCCCCAAACACACCCAA	GRCh38
NC_000016.9:g.89986092_89986093insCACCCCCAAACACACCCAA , CM000678.1:g.89986092_89986093insCACCCCCAAACACACCCAA	GRCh37
NC_000016.8:g.88513593_88513594insCACCCCCAAACACACCCAA	NCBI36
NG_012026.1:g.6806_6807insCACCCCCAAACACACCCAA
NG_027810.1:g.2676_2677insCACCCCCAAACACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.426_427insCACCCCCAAACACACCCAA MANE Select	ENSP00000451605.1:p.Tyr143HisfsTer?
ENST00000639847.1:c.426_427insCACCCCCAAACACACCCAA	ENSP00000492011.1:p.Tyr143HisfsTer?
ENST00000555147.1:c.426_427insCACCCCCAAACACACCCAA	ENSP00000451605.1:p.Tyr143HisfsTer?
ENST00000555427.1:c.426_427insCACCCCCAAACACACCCAA	ENSP00000451760.1:p.Tyr143HisfsTer?
ENST00000556922.1:c.426_427insCACCCCCAAACACACCCAA	ENSP00000451560.1:p.Tyr143HisfsTer?
NM_002386.3:c.426_427insCACCCCCAAACACACCCAA	NP_002377.4:p.Tyr143HisfsTer?
NM_002386.4:c.426_427insCACCCCCAAACACACCCAA MANE Select	NP_002377.4:p.Tyr143HisfsTer?