Canonical Allele Identifier: CA2695237520

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2786982_2786993delinsATTGGCTTTGTCCAGTG , CM000686.2:g.2786982_2786993delinsATTGGCTTTGTCCAGTG	GRCh38
NC_000024.9:g.2655023_2655034delinsATTGGCTTTGTCCAGTG , CM000686.1:g.2655023_2655034delinsATTGGCTTTGTCCAGTG	GRCh37
NC_000024.8:g.2715023_2715034delinsATTGGCTTTGTCCAGTG	NCBI36
NG_011751.1:g.5759_5770delinsCACTGGACAAAGCCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12243_106+12254delinsATTGGCTTTGTCCAGTG
ENST00000679825.1:n.107-13_107-2delinsATTGGCTTTGTCCAGTG
ENST00000680285.1:n.320-2767_320-2756delinsATTGGCTTTGTCCAGTG
ENST00000680845.1:n.107-13_107-2delinsATTGGCTTTGTCCAGTG
ENST00000681787.1:n.106+12243_106+12254delinsATTGGCTTTGTCCAGTG
ENST00000681940.1:n.106+12243_106+12254delinsATTGGCTTTGTCCAGTG
ENST00000383070.2:c.611_*7delinsCACTGGACAAAGCCAAT MANE Select	ENSP00000372547.1:n.[c.611_*7delinsCACTGGACAAAGCCAAT;Leu204Pr...
ENST00000383070.1:c.611_*7delinsCACTGGACAAAGCCAAT	ENSP00000372547.1:n.[c.611_*7delinsCACTGGACAAAGCCAAT;Leu204Pr...
NM_003140.2:c.611_*7delinsCACTGGACAAAGCCAAT	NP_003131.1:n.[c.611_*7delinsCACTGGACAAAGCCAAT;Leu204ProfsTer...
NM_003140.3:c.611_*7delinsCACTGGACAAAGCCAAT MANE Select	NP_003131.1:n.[c.611_*7delinsCACTGGACAAAGCCAAT;Leu204ProfsTer...