Canonical Allele Identifier: CA1064494506

Gene: BMP2K PAQR3

Linked Data

• gnomAD v3: 4-78911364-C-CTTAAAAAA
• gnomAD v4: 4-78911364-C-CTTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911366_78911367insAAAAAATT , CM000666.2:g.78911366_78911367insAAAAAATT	GRCh38
NC_000004.11:g.79832520_79832521insAAAAAATT , CM000666.1:g.79832520_79832521insAAAAAATT	GRCh37
NC_000004.10:g.80051544_80051545insAAAAAATT	NCBI36
NG_047162.1:g.139989_139990insAAAAAATT
NG_053104.1:g.33074_33075insTTTTTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2819_2820insAAAAAATT (BMP2K) MANE Select	ENSP00000424668.2:p.Phe940LeufsTer26
ENST00000335016.9:c.2819_2820insAAAAAATT (BMP2K)	ENSP00000334836.5:p.Phe940LeufsTer26
ENST00000342820.10:c.*782+3845_*782+3846insTTTTTTAA (PAQR3)	ENSP00000344203.6:n.*782+3845_*782+3846insTTTTTTAA
ENST00000502613.1:c.1896_1897insAAAAAATT (BMP2K)
ENST00000511594.5:c.*824_*825insTTTTTTAA (PAQR3)	ENSP00000425080.1:n.*824_*825insTTTTTTAA
ENST00000512760.5:c.*792+3845_*792+3846insTTTTTTAA (PAQR3)	ENSP00000426875.1:n.*792+3845_*792+3846insTTTTTTAA
ENST00000628286.1:c.*1795_*1796insAAAAAATT (BMP2K)	ENSP00000487317.1:n.*1795_*1796insAAAAAATT
NM_198892.1:c.2819_2820insAAAAAATT (BMP2K)	NP_942595.1:p.Phe940LeufsTer26
XM_005263117.1:c.2708_2709insAAAAAATT (BMP2K)	XP_005263174.1:p.Phe903LeufsTer26
XM_011532101.1:c.2579_2580insAAAAAATT (BMP2K)	XP_011530403.1:p.Phe860LeufsTer26
XR_938694.1:n.1118-5204_1118-5203insTTTTTTAA (PAQR3)
XM_017008381.1:c.2579_2580insAAAAAATT (BMP2K)	XP_016863870.1:p.Phe860LeufsTer26
XM_017008382.1:c.1931_1932insAAAAAATT (BMP2K)	XP_016863871.1:p.Phe644LeufsTer26
XR_938694.3:n.1098-5204_1098-5203insTTTTTTAA (PAQR3)
NM_198892.2:c.2819_2820insAAAAAATT (BMP2K) MANE Select	NP_942595.1:p.Phe940LeufsTer26