Canonical Allele Identifier: CA2638666140

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973819-CCCTCCCCTCCCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973820_49973833del , CM000679.2:g.49973820_49973833del	GRCh38
NC_000017.10:g.48051184_48051197del , CM000679.1:g.48051184_48051197del	GRCh37
NC_000017.9:g.45406183_45406196del	NCBI36
NG_030592.1:g.9623_9636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1481_1494del
ENST00000240306.5:c.600_613del MANE Select	ENSP00000240306.3:p.Leu201GlyfsTer?
ENST00000240306.4:c.600_613del	ENSP00000240306.3:p.Leu201GlyfsTer?
ENST00000411890.3:c.384_397del	ENSP00000410622.2:p.Leu129GlyfsTer?
ENST00000611342.1:c.*470_*483del	ENSP00000480366.1:n.*470_*483del
NM_001934.3:c.384_397del	NP_001925.2:p.Leu129GlyfsTer?
NM_138281.2:c.600_613del	NP_612138.1:p.Leu201GlyfsTer?
XM_011524459.1:c.384_397del	XP_011522761.1:p.Leu129GlyfsTer?
XM_017024291.1:c.384_397del	XP_016879780.1:p.Leu129GlyfsTer?
NM_138281.3:c.600_613del MANE Select	NP_612138.1:p.Leu201GlyfsTer?
NM_001934.4:c.384_397del	NP_001925.2:p.Leu129GlyfsTer?