Canonical Allele Identifier: CA2688631006

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572503-A-ACAGAAACTGATACTACATCATTTAAAATTTCAAACAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572504_132572542dup , CM000670.2:g.132572504_132572542dup	GRCh38
NC_000008.10:g.133584752_133584790dup , CM000670.1:g.133584752_133584790dup	GRCh37
NC_000008.9:g.133653934_133653972dup	NCBI36
NG_033068.1:g.108074_108112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1227-62_1227-24dup MANE Select	ENSP00000484634.1:n.1227-62_1227-24dup
ENST00000250173.5:c.*91-62_*91-24dup	ENSP00000250173.2:n.*91-62_*91-24dup
ENST00000518642.5:c.*91-62_*91-24dup	ENSP00000428610.1:n.*91-62_*91-24dup
ENST00000519595.5:c.1227-62_1227-24dup	ENSP00000429791.1:n.1227-62_1227-24dup
ENST00000522597.1:n.496-62_496-24dup
ENST00000522789.5:c.447-62_447-24dup	ENSP00000428015.1:n.447-62_447-24dup
ENST00000618342.1:c.1227-62_1227-24dup	ENSP00000484802.1:n.1227-62_1227-24dup
ENST00000620350.4:c.1227-62_1227-24dup	ENSP00000484634.1:n.1227-62_1227-24dup
NM_012472.4:c.1227-62_1227-24dup	NP_036604.2:n.1227-62_1227-24dup
NR_073525.1:n.1451-62_1451-24dup
XM_006716538.2:c.1245-62_1245-24dup	XP_006716601.2:n.1245-62_1245-24dup
XM_011516950.1:c.1185-62_1185-24dup	XP_011515252.1:n.1185-62_1185-24dup
XM_011516952.1:c.981-62_981-24dup	XP_011515254.1:n.981-62_981-24dup
XM_011516953.1:c.867-62_867-24dup	XP_011515255.1:n.867-62_867-24dup
XM_011516954.1:c.867-62_867-24dup	XP_011515256.1:n.867-62_867-24dup
XR_428377.2:n.1479-62_1479-24dup
NM_001321961.1:c.1167-62_1167-24dup	NP_001308890.1:n.1167-62_1167-24dup
NM_001321962.1:c.981-62_981-24dup	NP_001308891.1:n.981-62_981-24dup
NM_001321963.1:c.867-62_867-24dup	NP_001308892.1:n.867-62_867-24dup
NM_001321964.1:c.867-62_867-24dup	NP_001308893.1:n.867-62_867-24dup
NM_001321965.1:c.867-62_867-24dup	NP_001308894.1:n.867-62_867-24dup
NM_001321966.1:c.807-62_807-24dup	NP_001308895.1:n.807-62_807-24dup
NM_012472.5:c.1227-62_1227-24dup	NP_036604.2:n.1227-62_1227-24dup
NR_073525.2:n.1451-62_1451-24dup
NR_135905.1:n.1440-62_1440-24dup
NR_135906.1:n.881-62_881-24dup
NR_135907.1:n.1127-62_1127-24dup
NR_135908.1:n.821-62_821-24dup
NR_135909.1:n.1245-62_1245-24dup
NR_135910.1:n.1552-62_1552-24dup
NR_135911.1:n.1631-62_1631-24dup
NR_135912.1:n.2190-62_2190-24dup
NR_135913.1:n.1877-62_1877-24dup
XM_006716538.3:c.1245-62_1245-24dup	XP_006716601.2:n.1245-62_1245-24dup
XM_011516950.2:c.1185-62_1185-24dup	XP_011515252.1:n.1185-62_1185-24dup
XM_017013296.1:c.1125-62_1125-24dup	XP_016868785.1:n.1125-62_1125-24dup
XM_017013297.1:c.867-62_867-24dup	XP_016868786.1:n.867-62_867-24dup
XM_017013298.1:c.867-62_867-24dup	XP_016868787.1:n.867-62_867-24dup
NM_012472.6:c.1227-62_1227-24dup MANE Select	NP_036604.2:n.1227-62_1227-24dup
NM_001321961.2:c.1167-62_1167-24dup	NP_001308890.1:n.1167-62_1167-24dup
NM_001321962.2:c.981-62_981-24dup	NP_001308891.1:n.981-62_981-24dup
NM_001321963.2:c.867-62_867-24dup	NP_001308892.1:n.867-62_867-24dup
NM_001321964.2:c.867-62_867-24dup	NP_001308893.1:n.867-62_867-24dup
NM_001321965.2:c.867-62_867-24dup	NP_001308894.1:n.867-62_867-24dup
NM_001321966.2:c.807-62_807-24dup	NP_001308895.1:n.807-62_807-24dup
NR_073525.3:n.1379-62_1379-24dup
NR_135905.2:n.1368-62_1368-24dup
NR_135906.2:n.809-62_809-24dup
NR_135907.2:n.1055-62_1055-24dup
NR_135908.2:n.749-62_749-24dup
NR_135909.2:n.1265-62_1265-24dup
NR_135910.2:n.1615-62_1615-24dup
NR_135911.2:n.1735-62_1735-24dup
NR_135912.2:n.2294-62_2294-24dup
NR_135913.2:n.1981-62_1981-24dup