Canonical Allele Identifier: CA53589610

Gene: MERTK

Linked Data

• dbSNP Id: rs112405825
• gnomAD v2: 2-112665245-AG-A
• gnomAD v3: 2-111907668-AG-A
• gnomAD v4: 2-111907668-AG-A
• MyVariant Identifiers: chr2:g.112665246del (hg19) ; chr2:g.111907669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111907673del , CM000664.2:g.111907673del	GRCh38
NC_000002.11:g.112665250del , CM000664.1:g.112665250del	GRCh37
NC_000002.10:g.112381721del	NCBI36
NG_011607.1:g.14060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295408.9:c.61+8877del MANE Select	ENSP00000295408.4:n.61+8877del
ENST00000295408.8:c.61+8877del	ENSP00000295408.4:n.61+8877del
ENST00000409780.5:c.-47+8877del	ENSP00000387277.1:n.-47+8877del
ENST00000421804.6:c.61+8877del	ENSP00000389152.2:n.61+8877del
ENST00000439966.5:c.61+8877del	ENSP00000402129.1:n.61+8877del
ENST00000616902.4:c.-1155+8877del	ENSP00000482824.1:n.-1155+8877del
NM_006343.2:c.61+8877del	NP_006334.2:n.61+8877del
XM_005263565.3:c.61+8877del	XP_005263622.1:n.61+8877del
XM_005263568.3:c.61+8877del	XP_005263625.1:n.61+8877del
XM_011510490.1:c.-129+8536del	XP_011508792.1:n.-129+8536del
XM_005263565.4:c.61+8877del	XP_005263622.1:n.61+8877del
XM_005263568.4:c.61+8877del	XP_005263625.1:n.61+8877del
XM_011510490.3:c.-129+8536del	XP_011508792.1:n.-129+8536del
XM_017003165.2:c.-1207+8877del	XP_016858654.1:n.-1207+8877del
NM_006343.3:c.61+8877del MANE Select	NP_006334.2:n.61+8877del