Canonical Allele Identifier: CA2580611687

Gene: MERTK

Linked Data

• ClinVar Variation Id: 2115879
• ClinVar RCV Id: RCV003024441

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111929338_111929339del , CM000664.2:g.111929338_111929339del	GRCh38
NC_000002.11:g.112686915_112686916del , CM000664.1:g.112686915_112686916del	GRCh37
NC_000002.10:g.112403386_112403387del	NCBI36
NG_011607.1:g.35725_35726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.280_281del MANE Select	ENSP00000295408.4:p.Leu94CysfsTer13
ENST00000295408.8:c.280_281del	ENSP00000295408.4:p.Leu94CysfsTer13
ENST00000409780.5:c.-46-15622_-46-15621del	ENSP00000387277.1:n.-46-15622_-46-15621del
ENST00000421804.6:c.280_281del	ENSP00000389152.2:p.Leu94CysfsTer13
ENST00000439966.5:c.246+34_246+35del	ENSP00000402129.1:n.246+34_246+35del
ENST00000616902.4:c.-936_-935del	ENSP00000482824.1:n.-936_-935del
NM_006343.2:c.280_281del	NP_006334.2:p.Leu94CysfsTer13
XM_005263565.3:c.280_281del	XP_005263622.1:p.Leu94CysfsTer13
XM_005263568.3:c.280_281del	XP_005263625.1:p.Leu94CysfsTer13
XM_011510490.1:c.91_92del	XP_011508792.1:p.Leu31CysfsTer13
XM_005263565.4:c.280_281del	XP_005263622.1:p.Leu94CysfsTer13
XM_005263568.4:c.280_281del	XP_005263625.1:p.Leu94CysfsTer13
XM_011510490.3:c.91_92del	XP_011508792.1:p.Leu31CysfsTer13
XM_017003164.1:c.91_92del	XP_016858653.1:p.Leu31CysfsTer13
XM_017003165.2:c.-988_-987del	XP_016858654.1:n.-988_-987del
NM_006343.3:c.280_281del MANE Select	NP_006334.2:p.Leu94CysfsTer13