Canonical Allele Identifier: CA764572461

Gene: BARD1

Linked Data

• dbSNP Id: rs1295415758
• MyVariant Identifiers: chr2:g.215617039_215617044del (hg19) ; chr2:g.214752315_214752320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752316_214752321del , CM000664.2:g.214752316_214752321del	GRCh38
NC_000002.11:g.215617040_215617045del , CM000664.1:g.215617040_215617045del	GRCh37
NC_000002.10:g.215325285_215325290del	NCBI36
NG_012047.2:g.62385_62390del
NG_012047.3:g.62392_62397del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1677+127_1677+132del MANE Select	ENSP00000260947.4:n.1677+127_1677+132del
ENST00000421162.2:c.324+127_324+132del	ENSP00000392245.2:n.324+127_324+132del
ENST00000613192.2:c.159-21812_159-21807del	ENSP00000483275.2:n.159-21812_159-21807de...
ENST00000613374.5:c.267+127_267+132del	ENSP00000484464.1:n.267+127_267+132del
ENST00000613706.5:c.1269+127_1269+132del	ENSP00000484976.2:n.1269+127_1269+132del
ENST00000617164.5:c.1620+127_1620+132del	ENSP00000480470.1:n.1620+127_1620+132del
ENST00000619009.5:c.365-21812_365-21807del	ENSP00000482293.1:n.365-21812_365-21807de...
ENST00000650978.1:c.3052+127_3052+132del
ENST00000260947.8:c.1677+127_1677+132del	ENSP00000260947.4:n.1677+127_1677+132del
ENST00000421162.1:c.324+127_324+132del	ENSP00000392245.1:n.324+127_324+132del
ENST00000455743.5:c.*1297+127_*1297+132del	ENSP00000412186.1:n.*1297+127_*1297+132de...
ENST00000465841.1:n.32+127_32+132del
ENST00000613192.1:c.74-21812_74-21807del	ENSP00000483275.1:n.74-21812_74-21807del
ENST00000613374.4:c.267+127_267+132del	ENSP00000484464.1:n.267+127_267+132del
ENST00000613706.4:c.324+127_324+132del	ENSP00000484976.1:n.324+127_324+132del
ENST00000617164.4:c.1620+127_1620+132del	ENSP00000480470.1:n.1620+127_1620+132del
ENST00000619009.4:c.365-21812_365-21807del	ENSP00000482293.1:n.365-21812_365-21807de...
ENST00000620057.4:c.*343+127_*343+132del	ENSP00000481988.1:n.*343+127_*343+132del
NM_000465.3:c.1677+127_1677+132del	NP_000456.2:n.1677+127_1677+132del
NM_001282543.1:c.1620+127_1620+132del	NP_001269472.1:n.1620+127_1620+132del
NM_001282545.1:c.324+127_324+132del	NP_001269474.1:n.324+127_324+132del
NM_001282548.1:c.267+127_267+132del	NP_001269477.1:n.267+127_267+132del
NM_001282549.1:c.365-21812_365-21807del	NP_001269478.1:n.365-21812_365-21807del
NR_104212.1:n.1670+127_1670+132del
NR_104215.1:n.1613+127_1613+132del
NR_104216.1:n.869+127_869+132del
XM_011511567.1:c.1623+127_1623+132del	XP_011509869.1:n.1623+127_1623+132del
XM_011511568.1:c.1677+127_1677+132del	XP_011509870.1:n.1677+127_1677+132del
XM_017004613.1:c.1776+127_1776+132del	XP_016860102.1:n.1776+127_1776+132del
XM_017004614.1:c.1776+127_1776+132del	XP_016860103.1:n.1776+127_1776+132del
XR_002959322.1:n.1867+127_1867+132del
NM_000465.4:c.1677+127_1677+132del MANE Select	NP_000456.2:n.1677+127_1677+132del
NM_001282543.2:c.1620+127_1620+132del	NP_001269472.1:n.1620+127_1620+132del
NM_001282545.2:c.324+127_324+132del	NP_001269474.1:n.324+127_324+132del
NM_001282548.2:c.267+127_267+132del	NP_001269477.1:n.267+127_267+132del
NM_001282549.2:c.365-21812_365-21807del	NP_001269478.1:n.365-21812_365-21807del
NR_104212.2:n.1642+127_1642+132del
NR_104215.2:n.1585+127_1585+132del
NR_104216.2:n.841+127_841+132del