Canonical Allele Identifier: CA603418310

Gene: ETV6

Linked Data

• dbSNP Id: rs1301041977
• gnomAD v2: 12-12038952-TTTG-T
• gnomAD v4: 12-11886018-TTTG-T
• MyVariant Identifiers: chr12:g.12038953_12038955del (hg19) ; chr12:g.11886019_11886021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886021_11886023del , CM000674.2:g.11886021_11886023del	GRCh38
NC_000012.11:g.12038955_12038957del , CM000674.1:g.12038955_12038957del	GRCh37
NC_000012.10:g.11930222_11930224del	NCBI36
NG_011443.1:g.241168_241170del , LRG_609:g.241168_241170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1248_1250del MANE Select	ENSP00000379658.3:p.Leu416del
ENST00000266427.3:c.85_87del
ENST00000396373.8:c.1248_1250del	ENSP00000379658.3:p.Leu416del
NM_001987.4:c.1248_1250del , LRG_609t1:c.1248_1250del	NP_001978.1:p.Leu416del
XM_011520607.1:c.1245_1247del	XP_011518909.1:p.Leu415del
XM_011520608.1:c.1221_1223del	XP_011518910.1:p.Leu407del
XM_011520609.1:c.984_986del	XP_011518911.1:p.Leu328del
XM_011520610.1:c.984_986del	XP_011518912.1:p.Leu328del
XM_011520611.1:c.984_986del	XP_011518913.1:p.Leu328del
XM_011520612.1:c.627_629del	XP_011518914.1:p.Leu209del
XM_011520607.2:c.1245_1247del	XP_011518909.1:p.Leu415del
XM_011520608.2:c.1221_1223del	XP_011518910.1:p.Leu407del
XM_011520609.2:c.984_986del	XP_011518911.1:p.Leu328del
XM_011520611.2:c.984_986del	XP_011518913.1:p.Leu328del
XM_011520612.2:c.627_629del	XP_011518914.1:p.Leu209del
XM_017018990.1:c.1113_1115del	XP_016874479.1:p.Leu371del
XM_017018991.1:c.984_986del	XP_016874480.1:p.Leu328del
NM_001987.5:c.1248_1250del MANE Select	NP_001978.1:p.Leu416del