Canonical Allele Identifier: CA535594728

Gene: MERTK

Linked Data

• dbSNP Id: rs1165310947
• gnomAD v2: 2-112705114-GA-G
• gnomAD v4: 2-111947537-GA-G
• MyVariant Identifiers: chr2:g.112705115del (hg19) ; chr2:g.111947538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111947542del , CM000664.2:g.111947542del	GRCh38
NC_000002.11:g.112705119del , CM000664.1:g.112705119del	GRCh37
NC_000002.10:g.112421590del	NCBI36
NG_011607.1:g.53929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.732del MANE Select	ENSP00000295408.4:p.Lys244AsnfsTer6
ENST00000295408.8:c.732del	ENSP00000295408.4:p.Lys244AsnfsTer6
ENST00000409780.5:c.204del	ENSP00000387277.1:p.Lys68AsnfsTer6
ENST00000421804.6:c.732del	ENSP00000389152.2:p.Lys244AsnfsTer6
ENST00000439966.5:c.*205del	ENSP00000402129.1:n.*205del
ENST00000616902.4:c.-484del	ENSP00000482824.1:n.-484del
NM_006343.2:c.732del	NP_006334.2:p.Lys244AsnfsTer6
XM_005263565.3:c.732del	XP_005263622.1:p.Lys244AsnfsTer6
XM_005263568.3:c.732del	XP_005263625.1:p.Lys244AsnfsTer6
XM_011510490.1:c.543del	XP_011508792.1:p.Lys181AsnfsTer6
XM_005263565.4:c.732del	XP_005263622.1:p.Lys244AsnfsTer6
XM_005263568.4:c.732del	XP_005263625.1:p.Lys244AsnfsTer6
XM_011510490.3:c.543del	XP_011508792.1:p.Lys181AsnfsTer6
XM_017003164.1:c.543del	XP_016858653.1:p.Lys181AsnfsTer6
XM_017003165.2:c.-536del	XP_016858654.1:n.-536del
NM_006343.3:c.732del MANE Select	NP_006334.2:p.Lys244AsnfsTer6