Canonical Allele Identifier: CA6454423

Gene: ETV6

Linked Data

• dbSNP Id: rs72552340
• ExAC: 12:12038834 T / TC
• gnomAD v3: 12-11885900-T-TC
• gnomAD v4: 12-11885900-T-TC
• MyVariant Identifiers: chr12:g.12038834_12038835insC (hg19) ; chr12:g.11885900_11885901insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885901dup , CM000674.2:g.11885901dup	GRCh38
NC_000012.11:g.12038835dup , CM000674.1:g.12038835dup	GRCh37
NC_000012.10:g.11930102dup	NCBI36
NG_011443.1:g.241048dup , LRG_609:g.241048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1153-25dup MANE Select	ENSP00000379658.3:n.1153-25dup
ENST00000396373.8:c.1153-25dup	ENSP00000379658.3:n.1153-25dup
NM_001987.4:c.1153-25dup , LRG_609t1:c.1153-25dup	NP_001978.1:n.1153-25dup
XM_011520607.1:c.1150-25dup	XP_011518909.1:n.1150-25dup
XM_011520608.1:c.1126-25dup	XP_011518910.1:n.1126-25dup
XM_011520609.1:c.889-25dup	XP_011518911.1:n.889-25dup
XM_011520610.1:c.889-25dup	XP_011518912.1:n.889-25dup
XM_011520611.1:c.889-25dup	XP_011518913.1:n.889-25dup
XM_011520612.1:c.532-25dup	XP_011518914.1:n.532-25dup
XM_011520607.2:c.1150-25dup	XP_011518909.1:n.1150-25dup
XM_011520608.2:c.1126-25dup	XP_011518910.1:n.1126-25dup
XM_011520609.2:c.889-25dup	XP_011518911.1:n.889-25dup
XM_011520611.2:c.889-25dup	XP_011518913.1:n.889-25dup
XM_011520612.2:c.532-25dup	XP_011518914.1:n.532-25dup
XM_017018990.1:c.1018-25dup	XP_016874479.1:n.1018-25dup
XM_017018991.1:c.889-25dup	XP_016874480.1:n.889-25dup
NM_001987.5:c.1153-25dup MANE Select	NP_001978.1:n.1153-25dup