Canonical Allele Identifier: CA543801721

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69763941del , CM000665.2:g.69763941del	GRCh38
NC_000003.11:g.69813092del , CM000665.1:g.69813092del	GRCh37
NC_000003.10:g.69895782del	NCBI36
NG_011631.1:g.29460del , LRG_776:g.29460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687384.1:c.-77+24240del	ENSP00000510225.1:n.-77+24240del
ENST00000693031.1:c.104+24240del	ENSP00000509845.1:n.104+24240del
ENST00000352241.9:c.104+24240del MANE Select	ENSP00000295600.8:n.104+24240del
ENST00000448226.9:c.100del	ENSP00000391803.3:p.Ser34AlafsTer14
ENST00000642352.1:c.104+24240del	ENSP00000494105.1:n.104+24240del
ENST00000328528.10:c.100del	ENSP00000327867.6:p.Ser34AlafsTer14
ENST00000352241.8:c.104+24240del	ENSP00000295600.7:n.104+24240del
ENST00000429090.5:c.-278+5185del	ENSP00000407620.1:n.-278+5185del
ENST00000433517.5:c.-53+1152del	ENSP00000411389.1:n.-53+1152del
ENST00000448226.6:c.104+24240del	ENSP00000391803.2:n.104+24240del
ENST00000457080.5:c.100del	ENSP00000391276.1:p.Ser34AlafsTer14
ENST00000472437.5:c.-53+249del	ENSP00000418845.1:n.-53+249del
ENST00000495741.1:n.220+24240del
NM_001184967.1:c.-53+249del	NP_001171896.1:n.-53+249del
NM_006722.2:c.100del	NP_006713.1:p.Ser34AlafsTer14
NM_198159.2:c.104+24240del	NP_937802.1:n.104+24240del
XM_005264754.1:c.104+24240del	XP_005264811.1:n.104+24240del
XM_006713164.2:c.-92+24240del	XP_006713227.1:n.-92+24240del
XM_011533722.1:c.104+24240del	XP_011532024.1:n.104+24240del
XM_011533724.1:c.-53+249del	XP_011532026.1:n.-53+249del
XM_011533725.1:c.104+24240del	XP_011532027.1:n.104+24240del
XM_011533726.1:c.104+24240del	XP_011532028.1:n.104+24240del
NM_001354604.1:c.104+24240del	NP_001341533.1:n.104+24240del
NM_001354605.1:c.104+24240del	NP_001341534.1:n.104+24240del
NM_001354606.1:c.104+24240del	NP_001341535.1:n.104+24240del
NM_001354607.1:c.-77+24240del	NP_001341536.1:n.-77+24240del
NM_001354608.1:c.-92+24240del	NP_001341537.1:n.-92+24240del
NM_001184967.2:c.-53+249del	NP_001171896.1:n.-53+249del
NM_001354604.2:c.104+24240del MANE Select	NP_001341533.1:n.104+24240del
NM_001354605.2:c.104+24240del	NP_001341534.1:n.104+24240del
NM_001354606.2:c.104+24240del	NP_001341535.1:n.104+24240del
NM_001354607.2:c.-77+24240del	NP_001341536.1:n.-77+24240del
NM_001354608.2:c.-92+24240del	NP_001341537.1:n.-92+24240del
NM_198159.3:c.104+24240del	NP_937802.1:n.104+24240del
NM_006722.3:c.100del	NP_006713.1:p.Ser34AlafsTer14